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Physical Assessment of the Newborn: Part 3

 Evaluate facial symmetry and features

Glabella Nasal bridge

Inner canthus Outer canthus

Nasal alae
(or Nare) Columella
Philtrum Vermillion
border of lip

© K. Karlsen 2013 © K. Karlsen 2013

Forceps Marks  Assess for symmetry when crying


 Asymmetry  cranial nerve injury
 Extent of injury
 Eye involvement 
ophthalmology evaluation

© David A. Clark MD © David A. Clark MD

© K. Karlsen 2013 © K. Karlsen 2013

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 1
Physical Assessment of the Newborn: Part 3

Bruising Moebius Syndrome


 Congenital facial paralysis

 7th cranial nerve (facial) commonly


Face
presentation
involved
delivery  Affects facial expression, sense
of taste, salivary and lacrimal
gland innervation
 Other cranial nerves may also be

© David A. Clark MD
involved
© David A. Clark MD

 5th (trigeminal – muscles of mastication)


 6th (eye movement)
 8th (balance, movement, hearing)
© K. Karlsen 2013 © K. Karlsen 2013

Outer canthal distance Outer canthal distance


Position, Size, Distance Position, Size, Distance
 Normal eye spacing   Normal eye spacing 
inner canthal distance = inner canthal distance =
palpebral fissure length Inner canthal distance palpebral fissure length Inner canthal distance
 Interpupillary distance
(midpoints of pupils) 
distance of eyes from each
other
Interpupillary distance

Palpebral fissure length (size of eye) Palpebral fissure length (size of eye)

© K. Karlsen 2013 © K. Karlsen 2013

Outer canthal distance


Position, Size, Distance Upward-slanting Palpebral Fissures
 Normal eye spacing   Outer canthus higher than inner
inner canthal distance = canthus
palpebral fissure length Inner canthal distance  Normal for Asian descent
 Interpupillary distance  May correlate with chromosomal abnormality
[midpoints of pupils]  including Trisomy 13 and 21
distance of eyes from each
other Trisomy 13 Trisomy 21
Interpupillary distance
 Palpebral slant  line drawn
from inner to outer canthus
should be perpendicular to
sagittal plane of face
Palpebral fissure length (size of eye)

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Physical Assessment of the Newborn: Part 3

Downward-slanting Palpebral Fissures Epicanthal Fold


 Outer canthus lower than inner canthus  Skin of upper eyelid covers inner canthus (corner) of

 Seen in infants with Treacher Collins and Noonan eye and ends in the skin of lower lid
syndrome  May disappear as bridge of nose grows

 Normal  Asian descent and some non-Asian infants

 May correlate with chromosomal abnormality or


syndrome  Trisomy 21and
other syndromes: Turner,
fetal alcohol, Noonan,
Rubinstein-Taybi, Williams,
and infants with
phenylketonuria (PKU)

© K. Karlsen 2013 © K. Karlsen 2013

Microphthalmia Hypotelorism
 Small palpebral fissure  Eyes unusually close together  decreased distance
between orbits
 Evaluate interpupillary distance
Trisomy 13 Trisomy 18 Microphthalmia of left eye  midpoints of the pupils
 May be associated with central
nervous system malformation

© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Hypertelorism Pupils and Red Reflex


 Eyes are too far apart   distance between orbits  Pupils equal, round,

 To evaluate, measure interpupillary distance reactive to light (PERRL)


 Often seen in infants with craniofacial syndromes  Red reflex present
bilaterally

© K. Karlsen 2013 © David A. Clark MD © David A. Clark MD © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Absent or Unequal Red Reflex Sclerocornea Blocked lacrimal duct


 Corneal opacities

 Glaucoma
 Sclerocornea
 Cataracts © David A. Clark MD

 Bilateral – absent red reflex


Conjunctivitis
 Unilateral – unequal red reflex Unilateral
 Tumors (e.g., retinoblastoma) congenital
cataract
 Mucous or foreign body in
© David A. Clark MD

tear film
Bilateral
congenital
cataracts
© David A. Clark MD © Jack Dolcourt MD
© K. Karlsen 2013 © K. Karlsen 2013

Coloboma Brushfield Spots


 Missing tissue in eye – cleft,  White / grayish spots on the surface of iris in a
“keyhole” shape, or “cat’s-eye” pupil partially or fully concentric ring
 Locations  eye lid, cornea, iris,  More frequently seen in Trisomy 21, but may also
lens, ciliary body, retina, choroid, be a normal variant
optic nerve
Trisomy 21
 Microphthalmia is common

 May be isolated finding or observed


with CHARGE association, 22q11
deletion, Trisomy 13 and 18,
Treacher Collins, Walker-Warburg
© Jack Dolcourt MD
 Full ophthalmologic evaluation
indicated
© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013

 Normal  insertion of ear falls above line drawn


Triangular from inner to outer canthus of eye
fossa
Helix Insertion

Antihelix
Concha Tragus
External auditory
meatus Antitragus

Lobule

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Abnormal  Low Set Preauricula r Pits


 Insertion of ear falls below line drawn
from inner to outer canthus of eye
 Assess for chromosomal abnormalities
or syndromes
Pierre Robin Sequence Trisomy 8

© David A. Clark MD
© K. Karlsen 2013 © K. Karlsen 2013

Preauricula r Skin Tags  Microtia – external portion of ear does not form
 Usually an isolated benign finding properly  impacts size, shape, location of pinna
and ear canal
 Evaluate for family history of deafness
 Anotia – complete absence of pinna and ear canal
 Renal workup may be indicated if other dysmorphic
features or risk factors present Microtia Anotia

© Crown copyright [2000-2005]


Auckland District Health Board

© CDC, National Center on Birth


Defects and Developmental Disabilities
© K. Karlsen 2013 © K. Karlsen 2013

Treacher Collins Syndrome Beckwith-Wiedemann Trisomy 13


Microtia, abnormally Syndrome Microtia /
shaped, aural atresia Extra creases of earlobe abnormal helix
and indentations into
Goldenhar Syndrome posterior helix
Microtia, aural atresia

© Jack Dolcourt MD

Trisomy 18
Microtia / auditory
canal atresia
© Jack Dolcourt MD
© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Choanal Atresia Choanal Atresia


 One or both nares are obstructed  One or both nares are obstructed

 Cyanotic at rest but  Cyanotic at rest but


‘pinks up’ with crying ‘pinks up’ with crying
 If bilateral, may need  If bilateral, may need
oral airway or oral airway or
endotracheal intubation endotracheal intubation

© K. Karlsen 2013 © K. Karlsen 2013

Choanal Atresia  Lips


 One or both nares are obstructed
 Gums
 Cyanotic at rest but
 Cheeks
‘pinks up’ with crying  Tongue
 If bilateral, may need
 Palate – hard, soft
oral airway or
endotracheal intubation

Area of
obstruction

© K. Karlsen 2013 © K. Karlsen 2013

Epstein Pearls
 Milia on midline of hard palate Short frenulum
 Usually grouped, firm, movable, opaque and white

 Very common  85% of newborns

 May take several months to resolve

Natal teeth

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Physical Assessment of the Newborn: Part 3

Macroglossia Cleft Lip and/or Palate


Congenital
hypothyroidism  Cleft lip more common than cleft palate

 Unilateral – more often on left side


 Bilateral
 70% of cleft lip and/or palate are isolated
oral clefts (no other associated defects)
 Causes: environmental, maternal diet,
maternal medications
Beckwith-  Maternal risk factors
Wiedemann © Jack Dolcourt MD

Syndrome  Smoking
 Diabetes
 Alcohol consumption © CDC, National Center on Birth
Defects and Developmental Disabilities
© K. Karlsen 2013 © K. Karlsen 2013

Unilateral Lateral Facial Cleft  Macrostomia

Treacher Collins Syndrome

Cleft lip © Jack Dolcourt MD


and
palate

© Jack Dolcourt MD

Cleft lip Cleft palate

© Jack Dolcourt MD

Bilateral
© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013

Micrognathia Pierre-Robin Sequence


 Small malformed mandible
Pierre Robin Sequence Treacher Collins Syndrome Mobius Syndrome
(micrognathia)  during
development, causes tongue to
move backward and upward in oral
cavity  may cause cleft palate
 Tongue obstructs airway
(glossoptosis)

© David A. Clark MD © Jack Dolcourt MD © Jack Dolcourt MD

Cleft palate
© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

 Short  Short
 Nuchal thickening  Nuchal thickening Turner’s Syndrome
 Webbing  Webbing webbed neck
 Torticollis  Torticollis
Pierre Robin Sequence Trisomy 21
 Masses short neck nuchal thickening  Masses

© Jack Dolcourt MD © David A. Clark MD


© K. Karlsen 2013 © K. Karlsen 2013

Cystic Hygroma Fetal Alcohol Syndrome


 Collection of lymphatic fluid  soft, fluctuant swelling  Flattened midface
that transilluminates  Broad nasal bridge
 Evaluate for chromosomal and cardiac abnormalities  Short, up-turned nose
 May compress trachea  ensure patent airway  Smooth, long philtrum

 Thin upper lip

 Hypoplastic maxilla

© David A. Clark MD
© Crown copyright [2000-2005]
Auckland District Health Board

© K. Karlsen 2013 © K. Karlsen 2013

Trisomy 21 Trisomy 18
 Short round head  Prominent occiput

 Flat facial profile  Triangular facies

 Epicanthal folds  Small palpebral fissures

 Brushfield’s spots  Ptosis

 Up-slanting palpebral fissures  Pinched appearance of nose

 Short, flat nasal bridge  Low-set, malformed ears

 Protruding tongue  Micrognathia

 Short, narrow palate  Small mouth

 Small, low-set ears

 Short neck, excess


Fused eyes
nuchal folds
© K. Karlsen 2013 © Jack Dolcourt MD © K. Karlsen 2013 © David A. Clark MD © Jack Dolcourt MD

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Physical Assessment of the Newborn: Part 3

Trisomy 13 Trisomy 13
 Microcephaly, sloping forehead

 Holoprosencephaly
Microphthalmia
 Central facial anomalies

 Cleft lip, palate


© Jack Dolcourt MD

 Anophthalmia, microphthalmia, hypotelorism,


cataracts, coloboma of iris
 Midface hypoplasia Anophthalmia,
Holoprosencephaly
 Broad, bulbous nose

 Low-set, malformed ears

 Scalp  wide sagittal sutures


and fontanels, cutis aplasia
© K. Karlsen 2013 © K. Karlsen 2013

Shape Turner Syndrome


Broad chest and wide
 Broad
Short sternum spaced nipples
 Narrow

 Bell shaped

 Short

© David A. Clark MD

© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013 © David A. Clark MD © David A. Clark MD

Breasts and Nipples Accessory nipple Gynecomastia Respiratory Effort


 Placement  Abnormal
 Shape  Tachypnea
 Pigmentation  Nasal flaring
 Secretions
 Grunting
 Inflammation
 Retractions
Mastitis Wide spaced nipples

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Retractions Retractions
 Intercostal – between the ribs  Subcostal – below the rib cage

 Substernal – under the sternum  Suprasternal – above the sternum

© K. Karlsen 2013 © K. Karlsen 2013

Respiratory Airway Obstruction


distress  Nose

 Mouth and jaw

 Larynx or trachea

 Bronchi

Click on video
to replay
(with sound)

© K. Karlsen 2013 © K. Karlsen 2013

Diaphragmatic Hernia Diaphragmatic Hernia


 Defect in diaphragm 
allows bowel in chest
 UAC tip  aorta shifted
to right
 Gastric tube tip  in
stomach in chest

© K. Karlsen 2013 © K. Karlsen 2013


Hernia on right Hernia on left

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Physical Assessment of the Newborn: Part 3

Diaphragmatic Hernia Esophageal Atresia / Tracheoesophageal Fistula


 Presentation

 85% occur on left side


 Usually severe respiratory distress
 Scaphoid (sunken) abdomen,
barrel chest  especially as bowel fills with air
 Bowel sounds may be heard in chest
 If left hernia  heart sounds heard in right chest
 Stabilization
Type A Type B Type C Type D Type E
 Insert gastric tube to prevent air from entering 8% 1% 86% 1% 4%
stomach and intestine
 Intubate and provide gentle ventilatory support
© K. Karlsen 2013 © K. Karlsen 2013

Esophageal Atresia / Tracheoesophageal Fistula Esophageal Atresia / Tracheoesophageal Fistula


 Signs  Assess for VATER / VACTERL association

 Choking, coughing, cyanosis with feeding  Vertebral abnormalities


 Anal atresia
 Excessive salivation  if esophageal atresia
 Cardiac anomalies
 Respiratory distress secondary to aspiration  Tracheoesophageal fistula /
 Abdominal distension  fistula from trachea Esophageal atresia
to stomach  air cannot escape stomach  Renal and/or radial anomalies
 Maternal history  Limb dysplasia
 Polyhydramnios suggests esophageal # of Systems Affected Percentage of Cases
3 75%
atresia or bowel obstruction
4 25%
5 uncommon
Type C © Jack Dolcourt MD

86% of cases Congenital Heart Disease 75% of cases of VACTERL

© K. Karlsen 2013 © K. Karlsen 2013

VACTERL Association Heart Size 


Cardiothoracic Ratio
 A = widest horizontal
diameter of heart
A
Esophageal atresia,
right of midline
duodenal atresia,
dextrocardia,
fused ribs on left

Ensure x-ray reflects good


inspiration and infant is not rotated
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Physical Assessment of the Newborn: Part 3

Heart Size  Heart Size 


Cardiothoracic Ratio Cardiothoracic Ratio
 A = widest horizontal  A = widest horizontal
diameter of heart diameter of heart
A A
right of midline right of midline
B B
 B = widest horizontal  B = widest horizontal
diameter of heart diameter of heart
left of midline left of midline C
 C = widest internal
A + B
diameter of chest at or
just below base of heart
Ensure x-ray reflects good  Normal in neonate = + < of
inspiration and infant is not rotated
© K. Karlsen 2013 © K. Karlsen 2013

Heart Size  Precordial Activity  Normal


Cardiothoracic Ratio  “Quiet” chest area immediately above heart

 Enlarged  myocardial  Point of maximal impulse (PMI)

dysfunction,  5th intercostal space


congestive heart  Lower left sternal border (LLSB)
failure

 Small or compressed
 poor filling,
poor cardiac output

© K. Karlsen 2013 © K. Karlsen 2013

Precordial Activity  Abnormal


 Hyperactive precordium
Click to
 PMI shifted to right replay
(no sound)
 Dextrocardia
 Tension left pneumothorax
 Diaphragmatic hernia
 PMI shifted to left  tension
right pneumothorax

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

First Heart Sound  S1 Second Heart Sound  S2


 Closure of mitral and tricuspid valves  Closure of aortic and pulmonic valves = A2, P2

 End of atrial systole  End of ventricular

 Heard best systole


 5th intercostal  Heard best

space at the left  Upper left sternal


midclavicular line border (ULSB)
or  Pulmonic valve area
 Lower left sternal
border (LLSB)

Anterior ribs
numbered
© K. Karlsen 2013 © K. Karlsen 2013

Murmur Murmur
 Sound caused by turbulent  Sound caused by turbulent
blood flow due to: blood flow due to:
 Blood forced through  Blood forced through
narrowed areas PS narrowed areas
 Valvular stenosis  Valvular stenosis
 Ventricular septal defect (VSD)
Soft, higher Harsh, lower
pitched pitched

© K. Karlsen 2013 © K. Karlsen 2013

See the S.T.A.B.L.E.


Cardiac Module for an
Murmur Murmur  Intensity Grading in depth review of
 Sound caused by turbulent 1: Barely audible congenital heart disease
blood flow due to: 2: Soft but audible
 Blood forced through 3: Moderately loud, no thrill
narrowed areas
4: Loud, associated with thrill  vibratory sensation
 Valvular stenosis
5: Audible with stethoscope barely touching chest
 Ventricular septal defect (VSD)
6: Audible with stethoscope not touching chest
 Regurgitation through
incompetent or abnormal valves
Ebstein’s

 Flow across normal structures –


anemia Palpating for thrill

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Ectopic Cordis  Appearance  full, slightly rounded


 Split sternum – heart protrudes outside the chest  Color  no discoloration
 Intracardiac anomalies common  Bowel sounds active
 High mortality rate  Palpation  soft and non-tender, no organomegaly
 Stool  meconium passage within 1st 48 hours of life
 Emesis  minimal, non-bilious, non-projectile
Normal meconium stool Stool at 3 days, breast fed infant

© K. Karlsen 2013 © K. Karlsen 2013

 Appearance  scaphoid, distended, visible loops Scaphoid Abdomen


 Color  erythema, bluish discoloration
 Bowel sounds  hypo or hyperactive Bile stained
Congenital diaphragmatic hernia
 Palpation  firm, tender emesis in 4-day
old with volvulus
 Stool  blood in stool or frankly bloody
 Emesis  bilious, projectile, large volume

Blood in
stool

© K. Karlsen 2013 © K. Karlsen 2013

Distended Abdomen Distended Abdomen


Visible bowel loops –
bilious gastric drainage

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Bowel obstruction

Pneumatosis
Pneumoperitoneum –
intestinalis
free intra-abdominal air Esophagus

Stomach
Duodenum Colon
Ileum Jejunum
Rectum
Anus

© K. Karlsen 2013 © K. Karlsen 2013

Duodenal Atresia Duodenal Atresia


 “Double-Bubble” sign

Infant with Trisomy 21


Distended gas filled stomach and
mildly distended gas filled duodenal
bulb / No bowel gas in rest of bowel
Complete atresia Partial or complete obstruction
secondary to annular pancreas
© K. Karlsen 2013 © K. Karlsen 2013

J ejunoileal Atresia Meconium Ileus


 Atresia may be in ileum,  Inspissated meconium
jejunum or both obstructs the terminal ileum
 Small bowel is dilated with  Pellets of hard meconium
gas prior to area of atresia prevent passing of gas
or stool
Type IIIa
 Majority of cases caused
Jejunoileal
Atresia by a lack of pancreatic
enzymes  necessary to
digest intestinal contents
 Evaluate for cystic fibrosis

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Colonic Atresia Meconium Plug Syndrome


 Note dilated small  More common in preterm infants and infants of
intestine and colon up diabetic mothers
to area of atresia  Poor intestinal motility  thick inspissated meconium
obstructs colon
 Small percentage of infants may have cystic fibrosis

centimeters

© K. Karlsen 2013 © K. Karlsen 2013

Umbilical Cord Wharton's J elly Cyst


 Two arteries  May occur at any location along cord

 One vein  Irregular shape and located between vessels

 Umbilicus cutis   20% are associated with structural (omphalocele,


normal variant patent urachus,
 Periumbilical skin extends up sides of umbilical cord hydronephrosis) or
chromosomal
 Forms an outpouching when cord falls off
abnormalities
 Differentiate from umbilical hernia
Umbilicus cutis

© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Single Umbilical Artery Umbilical Cord  True Knot


 Two vessel cord  1 artery, 1 vein   Risk of intrauterine demise due to cord

 Incidence compression or birth asphyxia due to tightening of


knot at delivery
 Singleton: 5 to 10/1,000 births
 Twin gestation: 35 to 70/1,000 births
  Risk for chromosomal
abnormalities and congenital
malformations, especially
genitourinary system

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Omphalitis Patent Urachus


 Infection of umbilical stump  usually presents around  Urachus  embryonic connection
3rd day of life between fetal bladder and umbilicus
 Erythema, edema, tenderness  Postnatally becomes fibrous cord
 Discharge may be foul  Patent urachus  hollow tube
smelling connecting bladder and umbilicus
 May be localized infection  Urine seen exiting umbilicus
or spread to abdominal wall,  Differentiate from granuloma 
peritoneum, umbilical or soft tissue, 3 – 10 mm, dull red or
portal vessels, pink, vascular and granular,
liver treated with silver nitrate cautery
until base is dry
Patent
© Crown copyright [2000-2005]
Auckland District Health Board
urachus
© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Omphalocele Omphalocele
 Abdominal wall defect   High incidence (50 to 75%) of significant chromosomal,
abdominal contents herniate cardiac, gastrointestinal, genitourinary,
into base of umbilical cord musculoskeletal, central nervous system anomalies
 Covered by membranous sac 
umbilical cord connects to
central portion of membrane © David A. Clark MD

 Can be subtle 
carefully assess
all cords before
clamping

© K. Karlsen 2013 © K. Karlsen 2013

Omphalocele Gastroschisis
 Membranous sac protects herniated organs unless it  Defect in abdominal wall to
becomes torn RIGHT of umbilical cord
See Stabilization
Folder for initial  No peritoneal sac protects
care guidelines herniated organs
 5 to 10% incidence associated
defects

© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

Gastroschisis – Initial Care Hernia


 Umbilical

 Inguinal

© Crown copyright [2000-2005]


Auckland District Health Board © Jack Dolcourt MD

See Stabilization
Folder for initial
care guidelines
© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD © David A. Clark MD

Malrotation Malrotation
 Mesentery fails to attach to  Mesentery fails to attach to
entire posterior abdominal wall entire posterior abdominal wall
 Instead abnormally attaches  Instead abnormally attaches
in region of duodenum  in region of duodenum 
Ladd’s bands Ladd’s bands

Midgut Volvulus (twisting)


 Clockwise rotation with
strangulation  blood supply
to small intestine cut off

© K. Karlsen 2013 © K. Karlsen 2013

Midgut Volvulus Midgut Volvulus

Surgical evaluation Time 1 Reevaluation 24 hours later


Necrotic bowel Some bowel recovery
Necrotic bowel resected
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Physical Assessment of the Newborn: Part 3

Midgut Volvulus – Presentation Liver


 Bilious emesis  Normal size  2 cm below right costal margin

 Abdominal exam  Located in right

 Soft or tender abdomen


 May or may not be distended
 With progressive vascular compromise of intestine,
ischemia causes:
 Significant pain
 Bloody stools
 Shock and metabolic
acidosis

© K. Karlsen 2013 © K. Karlsen 2013

Liver Liver Enlargement


 Midline location  asplenia or polysplenia syndrome

 Left abdomen location Cytomegalovirus –


 Heart in right side  situs inversus totalis – usually hepatosplenomegaly
normal heart
 Heart in left
side usually
indicates
complex CHD
© David A. Clark MD
Heart
on Biliary atresia – liver
right
Liver enlargement and acholic stool
on left

© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Liver  Gluteal or natal cleft


 Auscultate over liver  Groove between
 If bruit heard  may indicate arteriovenous buttocks from sacrum
malformation (AVM) secondary to large hepatic to perineum
hemangioma  Gluteal fold
 AVM may precipitate
high output congestive
heart failure

13
© K. Karlsen 2013 © K. Karlsen 2013

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Physical Assessment of the Newborn: Part 3

 Inspect from base of skull Coccygeal Pit  common and harmless


down to coccyx and  Located within gluteal cleft
between gluteal cleft  Skin visualized at base
 Skin disruption  evaluate
for underlying mass
 Dimples, pits Y-shaped gluteal cleft,
 Unusual pigmentation (outside of sacral pits
mongolian spots)
 Palpate for
 Vertebral alignment
 Abnormal curvature  scoliosis,
lordosis, kyphosis Abnormal thoracic
vertebral column
© K. Karlsen 2013 © K. Karlsen 2013

Pit versus Sinus Spinal Dysraphism


 Stretch the skin lateral to dimple  Term used to describe congenital
Myelocystocele
 If skin can be seen covering entire dimple this is a
malformation of spine or spinal cord
coccygeal pit  benign finding  Open lesions: neural tube exposed
 myelomeningocele, meningocele,
 If base of dimple cannot be visualized  dermal sinus
anencephaly
 Closed lesions: defect covered by skin
Dermal Sinus  may communicate with spinal canal  dermal sinus tract, tethered spinal
Lipomeningocele
 Associated with occult spinal dysraphism and  risk cord, myelocystocele, spinal cord
for meningitis lipoma, lipomeningocele (and more)
 Locations  lumbosacral, occipital Occult Spinal Dysraphism (OSD)
 Never probe area  risk of introducing infection  Synonym used for closed lesions 
skin covered neural tube defect
© K. Karlsen 2013 © K. Karlsen 2013

Occult Spinal Dysraphism (OSD) Occult Spinal Dysraphism (OSD)


 Most have an associated cutaneous
abnormality: Lumbo-sacral
mass
 Tuft of hair
Lipomatous
 Atypical dimple mass / tethered
 Skin tag or tail-like appendage cord diagnosed Cutis aplasia Lipoma Hairy patch
 Lipoma
 Hemangioma
 Cutis aplasia or dermal sinus tract
 Port-wine stain (concerning
especially if other lesions present)
  2 congenital midline skin lesions
 strongest marker of OSD
© David A. Clark MD Right side photos © Crown copyright [2000-2005] © Crown copyright [2000-2005]
© K. Karlsen 2013 © Crown copyright [2000-2005] © K. Karlsen 2013 District Health Board
Auckland © David A. Clark MD Auckland District Health Board
Auckland District Health Board

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 20
Physical Assessment of the Newborn: Part 3

Sacral Dimple Spina Bifida Occulta


 < 5 mm in size, midline, and < 2.5 cm  One or more of the vertebrae are malformed
from anus not associated with OSD*  Small gap in spine, but is covered by skin
 > 5 mm in size, deep, > 2.5 cm from  Spinal cord and nerves usually normal
anus may indicate OSD* (especially if
 Usually does not cause any nervous
combined with other lesions)
system disability

*OSD: Occult (closed)


Spinal Dysraphism

From: http://www.cdc.gov/ncbddd/spinabifida/facts.html
© Crown copyright [2000-2005]
Auckland District Health Board
© K. Karlsen 2013 © K. Karlsen 2013

Open Spinal Dysraphism  Meningocele Open Spinal Dysraphism  Myelomeningocele


 Spinal fluid and meninges protrude through abnormal  Sac of fluid protrudes through back and
vertebral opening does contain spinal cord and nerves
 No neural elements (spinal cord)  Moderate to severe disability 

 May or may not be covered by may affect bowel and bladder


a layer of skin continence and sensation
in legs or feet
 Usually no nerve damage, but
outcome is variable

From: http://www.cdc.gov/ncbddd/spinabifida/facts.html From: http://www.cdc.gov/ncbddd/spinabifida/facts.html

© K. Karlsen 2013 © K. Karlsen 2013

Myelomeningocele Evaluation Myeloschisis


 Membrane intact versus ruptured  Most severe form of myelomeningocele

 Size and location of lesion  Complete exposure of nerves and tissues

 Tone, spontaneous movements, reflexes

 Presence or absence of anal wink

 Ability to void and empty bladder

 OFC, sutures, fontanel for hydrocephalus

© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013 © David A. Clark MD

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 21
Physical Assessment of the Newborn: Part 3

Myelomeningocele – Initial Care Imperforate Anus


 Meconium from a fistula external to
hymen but not on perineal skin
indicates rectovestibular fistula 
most common type of imperforate
anus in females
Fistula

See Stabilization Fistula


Folder for initial
care guidelines
© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Imperforate Anus  Urine output  majority of term, well newborns void


 May have low or high lesion within 24 hours of life
 Watch for meconium from fistula  Volume increases as enteral intake is established
 Male urine stream: straight, forceful, continuous
 Palpation
© David A. Clark MD
 Kidneys – smooth, equal in size

Rectoperineal fistula location


© David A. Clark MD
Evaluate here for
meconium  would indicate
rectoperineal fistula Normal
Rectoprostatic fistula urine output
Rectoprostatic fistula  between from urethra
distal bowel and urethra
© K. Karlsen 2013 © K. Karlsen 2013

Delay in Urination Eagle-Barrett Syndrome – “Prune-Belly Syndrome”


 24 to 48 hours of life  evaluate for  Renal and urinary tract abnormalities

 Palpable bladder  Ureters dilated and tortuous – reflux common


 Abdominal mass  Bladder enlarged
 Hydration status  Infection common secondary
Distended bladder to urinary stasis
 > 48 hours of life is concerning

 Further workup to evaluate  Deficiency of abdominal wall

for impaired renal musculature  protruding,


function is indicated thin-walled abdomen with
wrinkled skin

© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013 © David A. Clark MD

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 22
Physical Assessment of the Newborn: Part 3

Eagle-Barrett Syndrome – “Prune-Belly Syndrome” Oligohydramnios Sequence  Potter’s Syndrome


 Intestinal malrotation common  Oligohydramnios (little amniotic fluid) or

 Less common  limb and cardiac anomalies anhydramnios (no amniotic


fluid produced) secondary to
 95% of cases are male infants
renal agenesis or severe renal
 Bilateral cryptorchidism structural disorders
 Results in fetal compression
and impaired fetal breathing
and lung development

© K. Karlsen 2013 © Jack Dolcourt MD © K. Karlsen 2013 © David A. Clark MD

Bladder Exstrophy and Epispadias Bladder Exstrophy and Epispadias


 Bladder exstrophy  inner posterior wall of bladder (male infants shown)
protruding through a defect in anterior pelvic wall
 Repair before 48 hours may
be more successful because
of maternal hormone relaxin
 Epispadias

 Male: short, wide penis


with urethral opening
on dorsal surface
 Female: urethral opening
between bifid clitoris
and labia
© K. Karlsen 2013 © William Kennedy MD © K. Karlsen 2013 © David A. Clark MD

Hypospadias
 Subcoronal  urethral opening near head,
but not at tip of penis
 Midshaft  urethral opening located on Coronal
shaft of penis hypospadias Subcoronal hypospadias Epispadius
© Jack Dolcourt MD

 Penoscrotal  urethral
opening where penis and Subcoronal Midshaft Penoscrotal
shaft of penis and
scrotum meet
 Circumcision contraindicated
in newborn period 
skin will be needed for © David A. Clark MD © David A. Clark MD

surgical correction © CDC, National Center on Birth


Defects and Developmental Disabilities

© K. Karlsen 2013 © K. Karlsen 2013

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 23
Physical Assessment of the Newborn: Part 3

Chordee Genital Hypoplasia


 Ventral curvature of the penis

 May also have hypospadias

 Circumcision is contraindicated in newborn period  Micropenis and


skin will be needed for surgical correction cryptorchidism
(undescended testes) © David A. Clark MD

Chordee with
hypospadias and
bifid scrotum

© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Hydrocele
 Fluid collection in the scrotum  smooth / non-tender, Incomplete fusion of
unilateral or bilateral scrotal/labial folds Absent right testicle Cryptorchidism
 Transillumination  confirms fluid-filled contents

 Most resolve by 1 year

© David A. Clark MD © David A. Clark MD


© Jack Dolcourt MD

© Crown copyright [2000-2005]


Auckland District Health Board
© K. Karlsen 2013 © K. Karlsen 2013

Testicular Torsion
 Usually occurs prenatally
Bruising and edema from breech vaginal delivery
 Testicle may be:

 Nontender
 Firm
 Indurated
 Swollen
 If acutely occurred 
extremely tender to
palpation © David A. Clark MD

 If longstanding  may not Right testicle is affected


show any signs of pain Note: subtle discoloration
and size difference
© K. Karlsen 2013 © K. Karlsen 2013

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 24
Physical Assessment of the Newborn: Part 3

Vaginal prolapse Pseudo menses  Work-up by endocrine, genetics, urology


specialists to determine gender and
underlying cause of ambiguity
Circumcision is contraindicated
Virilization due to when genital ambiguity exists
congenital adrenal
hyperplasia (CAH)
© Jack Dolcourt MD © David A. Clark MD

Redundant
vaginal mucosa,
vaginal skin tag
All photos © Jack Dolcourt MD

© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013

 Work-up by endocrine, genetics, urology Humerus


specialists to determine gender and
underlying cause of ambiguity Femur
Circumcision is contraindicated
when genital ambiguity exists

© Jack Dolcourt MD

© K. Karlsen 2013 © K. Karlsen 2013

Breech Presentation Developmental Dysplasia of the Hip (DDH)


 Evaluate for developmental dysplasia of hip  Dislocation of femoral head from hip socket
(acetabulum)
 1 to 2 per 1,000 births

 Risk factors

 Female  secondary to additional


estrogen production which
increases ligamentous laxity
 Breech presentation
© David A. Clark MD
 Oligohydramnios  restricted
movement
 Positive family history + Galeazzi sign if
unilateral dislocation
© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 25
Physical Assessment of the Newborn: Part 3

Developmental Dysplasia of the Hip (DDH) Developmental Dysplasia of the Hip (DDH)
 Signs  Ortolani Maneuver

 May have no noticeable difference


 If unilateral, uneven skin folds of
thigh or buttocks and shorter leg
on side of hip dislocation
 Occurs on

 Left side 60%


 Right side 20%
 Both sides 20%

+ Galeazzi sign if
unilateral dislocation
© K. Karlsen 2013 © K. Karlsen 2013

Developmental Dysplasia of the Hip (DDH) Brachial Plexus Injuries


 Barlow maneuver  Stretching or tearing of the plexus  nerves
originating from C5 to T1
 May have history of macrosomia, difficult delivery
with traction and lateral neck flexion secondary to:
 Shoulder dystocia
 Prolonged vaginal extraction
 Breech presentation with traction of shoulder
 Difficult vertex presentation with turning away of head
 Usually unilateral  right side affected more often

 Also evaluate for fracture of clavicle or humerus

© K. Karlsen 2013 © K. Karlsen 2013

Brachial Plexus Injuries – 3 types Brachial Plexus Injuries – 3 types


1. Erb Palsy 1. Erb Palsy
 Most common form, involves C5, C6, at times, C7  Improvement usually seen within first few days of life

 Partial paralysis of shoulder muscles and complete recovery by 1 to 18 months


 Arm adducted, internally rotated and
pronated, extension of elbow, wrist
flexed  “waiter’s tip” position
 Reflexes

 Asymmetrical Moro, absent on affected side


 Biceps reflex weak or absent
 Grasp usually present

© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 26
Physical Assessment of the Newborn: Part 3

Brachial Plexus Injuries – 3 types Arthrogryposis Multiplex Congenita


2. Klumpke  Multiple joint contractures present at birth

 C8 and T1 injury  Evaluate for any condition limiting


 Forearm and hand involved  wrist and finger fetal movement  neuromuscular
extension weak, hand flaccid, grasp reflex absent, disease, brain malformations,
deep tendon reflex present chromosomal defects, genetic
syndromes, lesions of central
nervous system
3. Complete Palsy
 ~ 150 different syndromes associated
 Injury of all plexus nerves, all reflexes absent
with multiple congenital contractures
 Involved muscles are replaced
partially or completely by fat and
fibrous tissue
© K. Karlsen 2013 © K. Karlsen 2013

Arthrogryposis Multiplex Congenita Achondroplastic Dwarfism


 Upper and lower extremities involved in 40% of cases  Macrocephaly, prominent

 Shoulders  adducted, internally forehead, flat nasal bridge


rotated  Average size torso

 Elbows and wrists  flexion/extension  Short arms and legs (especially


contractures, radial deviation upper arms and thigh area)
 Hands  thumb deformities,  Fingers short, with abnormal
rigid interphalangeal joints appearance at times – extra space
 Hips  abduction, external rotation, between the middle and ring
contractures, dislocation of hip(s) fingers – “trident” hand
 Knees  extension/flexion contractures  Bowed lower legs

 Bilateral club foot

© K. Karlsen 2013 © K. Karlsen 2013

Achondroplastic Dwarfism Thanatophoric Dysplasia


 May be inherited or spontaneous  Lethal congenital skeletal dysplasia
mutation (both parents without  Features
dwarfism)
 Large head
 Genetic bone disorder
 Short neck
 Most common type of dwarfism –
 Narrow thorax
short-limbed dwarfism
 Short limbs © David A. Clark MD

 Normal intelligence © David A. Clark MD


 Short, small fingers
 Bowed extremities

© K. Karlsen 2013 © K. Karlsen 2013 © Jack Dolcourt MD © David A. Clark MD

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 27
Physical Assessment of the Newborn: Part 3

Triploidy
Amniotic Band
Syndrome
 Constriction
Claw hand
© David A. Clark MD
 Amputation © Jack Dolcourt MD
Cornelia de Lange
Asymmetric
© David A. Clark MD © David A. Clark MD © David A. Clark MD
Phocomelic
shortening of 1st Zellweger Syndrome
and 2nd fingers Ulnar deviation

© David A. Clark MD © David A. Clark MD

© David A. Clark MD

© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD © David A. Clark MD

Hypoplasia of Polydactyly
right thumb  Evaluate for bone in stalk
connecting digit to hand

Rubinstein-Taybi
Bifid thumb Broad thumb

© David A. Clark MD

© Jack Dolcourt MD

© David A. Clark MD © Jack Dolcourt MD © David A. Clark MD


© Crown copyright [2000-2005]
© K. Karlsen 2013 © K. Karlsen 2013 Auckland District Health Board

Syndactyly Rocker
bottom feet
Toes
Fingers
Dorsiflexed hallux

Club feet

© David A. Clark MD © David A. Clark MD

© Jack Dolcourt MD
© K. Karlsen 2013 © David A. Clark MD © K. Karlsen 2013

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 28
Physical Assessment of the Newborn: Part 3

Zellweger
Syndrome Goltz Lymphedema
Prominent knees Syndrome  Turner’s Syndrome
Oral-facial-
digital Type 2
Duplication of
hallus

© Jack Dolcourt MD

Smith-Lemli-
Opitz
Syndactyly,
polydactyly

© K. Karlsen 2013 © K. Karlsen 2013 © Jack Dolcourt MD © David A. Clark MD


All photos © David A. Clark MD

Trisomy 21 Trisomy 18
 Short, broad hands and feet  Overlapping, tapered fingers

 Simian crease across palm  Hypoplastic nails

 Wide space between great and  Rocker-bottom feet


© Jack Dolcourt MD

2nd toe

© Jack Dolcourt MD

Simian crease
© K. Karlsen 2013 © K. Karlsen 2013 © David A. Clark MD

Trisomy 13
 Polydactyly

 Syndactyly

 Tapered, thin fingers

 Short hallux (great toe)

 Rocker bottom feet

© David A. Clark MD

© K. Karlsen 2013 © David A. Clark MD

The S.T.A.B.L.E® Program © 2013. Handout may be reproduced for educational purposes. 29

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