Pediatrics

up to date 2022

For batches 43,44,45

M.Khalil
 ‫بسم اهلل الرحمن الرحيم‬

‫اللهم ال سهل اال ماجعلته سهال وأنت تجعل الحزن اذا شئت سهال‬

‫نقدم بني ايديكم بفضل اهلل وبحمده منهج ملاده‬

‫االطفال جامعه بنغازي وقد تم اعداد هذا املنهج من‬
‫تسجيالت قسم االطفال ومن الباوربوينت ومن‬
‫معلومات االم سي كيو وقد تمت صياغه اغلب الجمل‬
‫من مجهودي الذاتي وتحويل شرح دكاتره االطفال‬
‫االفاضل الي جمل مبسطه من اجتهادي الشخصي‬
‫وتم ترتيب كل تلك املعلومات تباعا لكي تكتمل‬
‫الصوره ‪ ،‬وعليه فإن تواجد هذه الجمل في اي منهج‬
‫آخر مستقبال بنفس الصياغه او الترتيب تعد سرقه‬
‫للمحتوي العلمي او مايعرف ب ‪ plagiarism‬فقد‬
‫سبق وتم سرقه منهج االطفال الذي اعددته سنه‬
‫‪ 2018‬والذي كان ايضا من اجتهادي الشخصي‬
‫في الصياغه والترتيب‬
 Chapter 1

Genetics
Index:

1) genetics (page1 - page 7)

‫نعمه الهوني‬.‫د‬

2) syndromes (page 8 - page 21)

‫وفاء املسماري‬.‫د‬
 Genetics ‫نعمه الهوني‬.‫د‬

Types of genetic disorders:

(1)Chromosomal abnormalities: (the whole chromosome is defected) >>> disorder is at

chromosomal level eg:
•Down, Edward , pataue and turner

(2) single gene defect on autosomal chromosomes (the whole chromosome is not
defected) >>> disorder is at gene level eg: any AR and AD
•betathalassemia (AR) , sickle cell anaemia (AR) , achondroplasia (AD), marfan (AD)

(3) single gene defect on sex chromosomes (the whole chromosome is not affected) >>>
disorder is at gene level eg: any x linked disease
•duchenne muscular dystrophy, hemophilia , G6PD

(4) polygenic (multi factorial) eg: cleft lip and cleft palate ,asthma , DM ,HTN , cancers

Note :

(1) sometimes you may find genetic disorder in a child eg: hemophilia with negative
family history this mean that the affected child inherited normal gene but this gene
develops new mutation >>> in future >>> this child will inherit this newly mutated gene
to his future children

(2) karyotyping (chromosomal analysis) is useful only in diagnosis of chromsomal

abnormalities not in gene defects

(3) genetic disorders are common affect 5% of live births

(4) somatic cells have normal DNA with 46 chromosomes >>> 44 autosomes and 2 sex
chromosomes located in the nucleus and mitochondria
(5) gonadal cells have DNA with haploid number of chromosomes ( 23 ) >>> 22
autosomes and 1 sex chromosome

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(6) genetic disorders due to defect in mitochondrial DNA will result in genetic
diseases run in family called Mitochondrial inheritance :

•transmission of the gene is only through the female why ? Because the mitochondria
is located in the tail of sperm and the tail is separated during the fertilization.
The affected female will affect both males and female, i.e. all offspring of an
affected mother are affected, and her affected daughter (but not sons ) pass the
affected gene to subsequent generation

(7) karyotyping is done by taking any sample containing cell for examble : hair but
the blood sample is more practical >>> working on nucleus of lymphocytes
Not RBC >>> because RBC doesn’t have nucleus (all cells have nucleus except RBC and
lens)

(8)Is it possible to find an autosomal recessive disease without consanguinity?

•yes if there is a high carrier rate for example >>> black people have a high carrier
rate in sickle cell anemia

(9)treatment of genetic disorders >>> no cure but improve the quality of life

(10)diagnosis of genetic disorders is important for genetic counseling to give advice

for a family about the future consangual marriage

(11) normal female somatic cells >>> xx >>> one of them is active and the other is
inactive (lyonization) >>> the inactive x is either paternal x or maternal x (randomized
inactivation) , But in gonadal cells the both x must be active

(12)numerical chromosomal abnormalities:

•Aneuploidy: abnormal number of a particular chromosome (normally each
chromosome has 2 copies)

(A)Trisomy: a chromosome with 3 copies (47) >>> trisomy 13, 18, 21(autosoms)
(B)Monosomy: a chromosome with 1 copy not two copies (absent chromosome)
>>>> Turner syndrome 45,X
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 Indication for chromosomal analysis
●Dysmorphic features
●Unexplained mental retardation
●Multiple congenital malformation
●Unexplained stillbirth
●Female with unexplained short stature
●Recurrent miscarriage
●Primary infertility
●Ambiguous genetalia
●Certain types of cancer

Note : mcq number 26 in page 32 >>> please change the answer into D

•Dominant gene : if mutant gene can express it self in heterozygous or homozygous

state
•Recessive gene : if mutant gene can express it self only in homozygous state  
•Trait : a characteristic passed from generation to generation eg: sickle cell

Autosomal dominent:

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Examples:
(1) vonwillebrand (2) adult polycystic kidney (3) achondroplasia
(4) osteogenesis imperfecta >>> excessive bone fragility , blue sclera presenile
hearing loss and dentinogenesis imperfecta (abnormal teeth)

Rules for AD inheritance:

1.Both female and male affected equally
2.Every affected person has an affected parent unless if there is new mutation
3.No carrier state

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4. Each offspring of one affected and one unaffected parent has a 50%
chance of being affected

Factors affecting autosomal dominant:

1.Pleiotropy:                                                                  
single gene defect >>>> multiple system affection ex: Tuberous sclerosis (Epilepsy,
skin lesion, learning difficulties)

&
2.Expressivity :
Variation in the severity among the affected generations
3. Reduced Penetrance :
• skipped generation

4. New mutation :

If an individual affected in one generation with no one else in previous generation,

this is usually due to one of the following : • New mutation • Reduced penetrance
• expressivity • Non paternity

Autosomal recessive:
1.Male and female affected equally
2.The pattern of expression in family pedigree is horizontal (i.e. siblings are
affected when their parent are not)
3. Heterozygotes are phenotypically normal genotypically they are carriers  
4.Parental consanguinity is usually present

Note: consanguinity = 3rd degree relatives

•If both parent are heterozygous carrier the result will be:
25% chance of affected
50% chance of heterozygous (not affected)
25% chance of homozygous unaffected
 
•If one parent carrier and the other is affected :
50% chance of homozygous affected
50% chance of heterozygous unaffected
(pseudo dominance)

Examples of autosomal recessive:

(1) albinism (2) Ectodermal dysplasia (3) sickle cell anemia (4) beta thalassemia
(5) cystic fibrosis

S
X linked inheritance recessive :

Examples:
(1) Duchenne muscular dystrophy (2) G6PD (3) hemophilia

Rules for X linked recessive:

•The incidence of the disease is very much higher in males than females (male is
diseased , female is carrier)
•if the father is diseased >>> All his sons normal and All his daughter carrier
(No male to male transmission in x linked recessive)
•carrier mother >>> Sons 50% normal &50% affected , Daughters 50% normal
&50% carrier

•Female may be affected with X linked recessive disorders in the following condition:
(1) carrier mother married an affected father ‫متزوجه ولد خالتها‬
(2) Turner syndrome
(3) Lyonization (inactive x)

X linked dominant inheritance :

•X linked dominant is manifested in the heterozygous female as well as in male

•Affected female X normal male  =
Sons: 50% affected & 50% normal
Daughter: 50% affected &50% normal  
 
•Affected male X normal female =
All sons normal (no male to male transmission)      
All daughter affected  

Conclusion: x linked dominant is more common in females

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What are the difference between XLD and Autosomal dominant ?
•No male to male transmission
•Excess of affected females
 
Example of autosomal dominant:
Vitamin D resistant Rickets
Incontenetia pigmentia

•note:
DNA analysis is useful in single gene disorders (genetic disorders in general)
But it is expensive and usually not available that’s why it is request only in suspected
rare genedic disorders when the diagnosis is difficult

I
 Syndrome ‫وفاء املسماري‬.‫د‬
a set of symptom occurring together from a single cause (Non random accumulation
of signs and symptoms)

•Malformation:
a defect in the shape & structure of a part eg: osteogenesis imperfecta

•Deformation:
a defect in the shape of body part eg: club foot

Major anomaly:
An abnormality that has ●Medical ●Surgical Or ●Cosmetic significance
& generally are not considered a variation of the normal spectrum
Bladder extrophy (ectopia vesicae):
•bladder mucosa with two masses in the groin ;these are the pubic rami (failed to
fuse to form symphysis pubis)
•associated with skeletal abnormalities

Pierre's robin Syndrome :

Micrognathia :
•Difficulty of feeding in supine >>> so feed the baby on prone position
•the tongue may goes backwards and block the airway passage causing suffocation
and stridor
•A safe air way must be established  by pulling the tongue forward and if necessary
stitching it to the lip
•Oral air way ;and tracheostomy may be indicated
•Other causes of micrognathia >>> Silver Russell syndrome ;Treacher Collin syndrome
But may be isolated condition

Absent thumb and / or radius DDx:

1) Holt Oram syndrome :
•A.D
•Upper limb anomalies + heart (VSD or ASD) so next step you have to do echo
•Also called heart hand syndrome

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(2) TAR syndrome (thrombocytopenia absent radius):
•next step >>> CBC looking for thrombocytopenia

Minor congenital anomalies:

•most commonly seen in the normal population
•do not cause increased morbidity Some minor anomalies may be clues to more
significant internal abnormalities >>> next step >>> full examination and screening is
necessary

Tuft of hair in the lumbosacral area:

•may shows no significance but may be associated with spina bifida occulta >>> do
screening with uss and xray

Cystic hygroma CX:

1. Infection 2. Hge 3. Airway Obstruction

Down syndrome:

•Commonest numerical genetic disorder

•disorder is at chromosomal level

•types of Trisomy 21 :

(1)Commonest type is mitotic non dysjunction (95%) >>> Related to maternal age with
recurrence rate about 1% (47 chromosome)

(2)Second type is translocation type (2%) >>> Robertsonian translocation:

Usually between (13, 14, 15, 21, 22) but most commonly b/w chromosome 21-14 in
the mother (more common) or father so the total no. of chromosomes is 45, but
practically one of which Consist of 2 chromosomes and the genome is 46 (balanced
translocation) ‫قصده بيها ان هي مش حيصيرلها شي بس املشكله لو جابت عيل‬
•This type is not associated to maternal age
•due to exposure to radiations , chemicals or spontaneous

I
•Note:

•21/21 translocation carries 100% risk of recurrence

(3)Third type is mosaic (1%) >>> Defect in the mitotic division of the zygot itself (post
fertilization event)
• The only constant feature is M.R ( non preventable ) >>> learning difficulties
• Dysmorphic features, M.R & hypotonia ( Central ) >>> Present in all cases

• Complications :
(1) Recurrent chest infection :

•Lazy leukocyte syndrome ( Chemotaxis )

•Hypotonia even in cilia
•M.R >>> F.B aspiration >>> 2ndy bacterial infection
•VSD >>> Plethoric lung due to Lt to Rt Shunt

Note: children with Down syndrome 40-50% have congenital heart diseases >>>
The commonest heart anomaly theoritically is AV canal or Cushion defect ( MR + TR
+OSTIUM PRIMUM + MEMBRANOUS VSD ) but clinically the commonest heart
disease is VSD

(2) Recurrent otitis media >>> Due to Short austachean tube & Narrow >>> Poor
drainge

(3) CNS:
•moderate M.R >>> IQ not exceed 69 •autism •Atlanto axial sublaxation •Alzheimer
•Developmental delay

4) Adenoid >>> Lymphatic tissue mass located behind the nasal cavity >>> Chronic
hypoxia >>> Pulmonary HTN >>> Rt sided H.R >>> Corpulmonale

(5) Gentelia:
•Male >>> infertile ( sterile ) >>> undescended atrophic testis (cryptochidism)
•If female >>> infertile but with normal genetalia
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(6) GIT and renal:
•D. atresia , Annular pancrease >>> Polyhydramnios, bile stained vomitus from the first
day of life and on CXR >>> double bubble sign

•Hirschsprungs disease :
A ganglionic disease presents with Delay passage of meconium (failure to pass
meconium within 48-72 hours) (Constipation) >>> stasis >>> infection >>> diarrhea and
Confirmed by biopsy
•Celiac
•Horse shoe kidney >>> recurrent UTI
•E. atresia & TOF
•Imperforated anus

(7)Hypothyroidism:
• M.R
•U.hernia and neonatal jaundice (important)
• Cholesterol >>> Premature atherosclerosis
(8) D.M (Not hypoglycemia)

(9) Weak mesenchymal syndrome:

•Hernia, varicocele, varicose veins, hemorrhoids

(10) 20 times risk to develop leukemia than normal children.

•AML > ALL  in children less than 3 years.
•But ALL > AML in children > 3 yrs of age.
•They respond very well to chemotherapy but the toxicity is more

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 ⬆⬆

General Examination:
(1) General look
A- Position
• Extended all limbs due to hypotonia
•Acrobat sign (hyperlaxity)due to sever hypotonia

B- Look for the face

• Cyanosis & flaring of Alae nasae (R.D) due to CHD or recurrent chest infection
• Pollor >>> leukemia >>> B.M suppression
• Dysmorphic feature >>> discuss later

(2) Vital signs

•Fever & R.R >>> Chest infection

(3) Measurements
• HC (Put on chart) >>> Microcephaly
• WT (Put on chart) >>> Hypotonia & recurrent infection >>> Malnutrition
•Length (Put on chart) >>> Short stature due to malnutrition

(4) General ex :
1- Head :
•Brachycephalic
•Fine silky hair
•3rd fontanel (important)
•Ant. Fontanel
Examine it on Semi setting >>> wide and delay closure >>> Post fontanel ( delay
closure )

2- Face :
•Small midface, depressed nasal bridge & abnormal and small nostrils & snoring (due
to adenoid)

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3- Eye >>> Upward slanting palpebral fissure (lat epicanthus is directed upward)
•Medical epicanthal fold
•Nystagmus
•epicanthal folds (hypertelorism)
•scanty hair of eyebrows
•Brush felid spots of the iris by Slit lamp (Brown spots) called speckled irides
•Keratoconus & strabismus
•Cataract ( occur in about 3% ) & must be extracted soon after birth to allow light
reach the retina
•Glaucoma & refractory errors
•B/L micro ophthalmia

4- Ear
•Low set car
•Discharge >>> Otitis media
•Lobulated ear
•Small hypoplastic ear
•Hearing problems due to recurrent otitis media >>> Conductive hearing loss

5- Mouth >>> Small oral cavity >>> Normal sized protruded tongue
•Scrotal tongue ( Fissured tongue )
•Micrognathia
•Delayed eruption of teeth ( Delayed development) and short teeth

6- Neck
•LAP Due to recurrent infection OR Leukemia
•Thyroid < 1% of down ass with absent thyroid tissue
•Goitre with hypothyroidism
•short neck & excessive skin fold at the nape (Excess nuchal skin)

7- Limbs >>> short limbs >>> short stature :

A- Hands
•Short broad blumpy hand and short fingers

1 3
•only two phalanges of the little finger and internaly rotated >>> Clinodactly
•Simian crease (1 % normal person) (single transverse palmer crease)
•Absent radius pulse
•Absent middle Phalynx of little finger
•Clubbing due to CHD or recurrent infection

B- Foot
•Short broad
•Sandal gap
•Deep longitudinal crease

8) Genethlia :
•hypospadias, undescended testis ( Empty scrotum ) small sized genetalia
(hypogonadism)

(9) Skin >>> Purpuric Skin rash due to thrombocytopenia caused by Leukemia

(10) Abdomen
A- Distension ( Pot belly abdomen ) >>> hypotonia
B- Scar
•D.A
•Annular Pancreases
•Hirchsprungs disease
C- HSM
•Leukemia
•CHD
•Recurrent infections( Primary immune deficiency )
•Hypotonic lax ligaments (Visceral ptosis)

D- Umbilical hernia
E- Stool mass ( Constipation ) due to 3 H >>> hypotonia or hypothyroidism or
Hirschsprung disease (But may develop diarrhea b/c bacterial overgrowth)

↓ U
Systemic examination:
1)CVS for CHD
2) Chest for chest infection

• Note:
1) Echocardiography should be performed on all infants suspecting to have trisomy 21
to identify CHD regardless of findings on Physical examination
2) down syndrome cause decrease in maternal serum alpha feto protein

Edward syndrome:

•disorder is at chromosomal level

•Trisomy 18
•Related to maternal age
•congenital heart disease (very common) (95%)
•Died within the first year due to sever VSD (Sever H.F & recurrent chest
infection)
Clinical features :
•small sized baby (LBW) (SGA)
•enophthamia
•Girls :Boys 3:1 why? >>> abortion usually occurred with male edward
•MR ,microcephaly ,low set ears
•Micrognathia , hypo plastic finger’s nails
•Hernias ,crossed legs
•renal abnormalities: >>> Horseshoe kidney, hydronephrosis ,polycystic kidney
•Cryptorchidism ; diastasis recti
•Sheild chest
•Hypertonia
•prominent occipit
•M.R >>> All trisomy have M.R
•Clenched Fist
•Rocker bottom feet ‫ عجله كرسي الهزاز‬with Prominent heel ( vertical talus ) , flexed big
toe
•Risk to develop leukemia, atlanto axial sublaxation
IS
Patau Syndrome:

•disorder is at chromosomal level

•Trisomy 13
•small sized baby
•Commonest Congenital H.D is VSD
•Multiple midline anomalies >>> cutis aplasia ( scalp defect ) & small eyes micro
ophthalmia, hypotelorism >>> eyes may fuse together in to ONE ,cleft lip, cleft Palate,
microcephaly, meningomyelocele , encephalocele , Micrognathia
•intractable seizure, undescended testicls and biliary atresia

•Clinical triad:
1)Microcephaly 2)Poly & syndactly 3)cleft lip, or palate
•Most of them died within the first year b/c of chest infection & H.F

Beck with wiedemann syndrome:

•Organomegally :
•Macroglossia : jacobs tongue >>> continue to grow larger and cause feeding and
breathing difficulties
•Cardiomegally, Pancreatomegally >>> insulin >>> Anabolic hormone + resistant
hypoglycemia

Prune belly syndrome :

•Absent abdominal muscle and there may be wrinkly folds of skin covering the
abdomen
•undescended testis (Cryptorchidism) & urinary tract malformation
•high prevalence of associated musculoskeletal abnormalities
•Common in male

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Turner syndrome:

•disorder is at chromosomal level

•(Monosomy X Chromosome )
•(45 X0 ) >>> Female only
•The single X chromosome is of maternal origin in 80% of cases
•Not related to maternal age
•Mentality is normal
•May be ass with horse shoe kidney or ectopic

In neonatal period:
•Transient non pitting edema in the dorsum of the hands & feet >>> resolve
spontaneously
•Do karyotyping to confirm that the cause of lymphadenopathy is Turner syndrome
•LBW
•thoracic duct obstruction >>> chylous pleural effusion >>> any neonate with pleural
effusion >>> you have to role out Turner or noonan syndrome

Later on :
•delayed puberty, Short Stature & infertility (The Commonest presentation of turner )

•Infertility due to ovarian dysgenesis and nearly all oocytes are gone by the age of 2
years >>> Primary amenorrhea >>> (+ve )Feedback >>> FSH & LH ( Gonadotrophic
hormones ) >>> called also hyper gonadotrophic hypogonadism (Disorder of sex
development)
•ovarian dysgenesis >>> decrease in estrogen >>> osteoporosis and atherosclerosis that’s
why the treatment includes replacement therapy and growth hormone

•So any female with unexplained short stature & infertility >>> Do Karyotype
(chromosomal study) >>> So most cases are recognized later on not at birth
•GIT bleeding
•cataract
•skin melanosis (pigmentation)

↑
Dysmorphic features:

1. Wide spaced nipple 2. Shield broad chest 3. Down slanted eyes (anti mangolian
slunting) 4. Prominent ears 5. Triangular face & webbed neck ( redundant skin folds
at the nape of the neck ) 6. Wide carrying angle more than 15 degree 7. Low
Posterior hair line 8. High arched palate 9. genovalgus 10. Excessive number of nevi
11. Shortening of 4th metacarpal & metatarsal bones

Note:
1)The diagnosis is 1st suspected at puberty when sexual maturation fails to occur
2)Short stature Is the cardinal finding &may be with minimal other manifestation
3)Chromosomal analysis must be considered in all short girls
(4)Commonest heart anomaly clinically is Coarctation of aorta ( hypertension in upper
limb and hypotension in lower limb ) & Lt sided H.D ( Mitral or aortic )
(5)bicasped aortic valve is the most common cardiac abnormality in turner (more
common than coarctation of aorta) but it is not noticed because it is asymptomatic)
(DR Ibrahim mekraz)
(6)short stature , carrying angle and webbed neck >>> after 4 years become very
clear

noonan syndrome:
•Same turner features
• short stature and Microcephaly
•A.D >>> Male = Female
•Subnormal mentality & Rt sided heart disease >>> Commonest is Pulmonary stenosis
or peripheral pulmonary stenosis (stenosis in left or right pulmonary artery)

Klinefelter Syndrome XXY (47):

results when a boy is born with an extra copy of the X chromosome•
•chromosomal disorder >>> non dysjunction of X chromosome
•male with Tall Stature, high arched Palate, hypogonadism (Disorder of sex
development) >>> infertility ,subnormal mentality , gynecomastia
•Atypical type >>> More than 1Y >>> risk for gonadal carcinoma eg: breast cancer
( Poor prognosis )

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Achondoplasia:

•A.D >>> singel gene disorder >>> disorder is at gene level (not the whole chromosome)
•Related to Paternal age
•large head with prominent forehead
•small chest, normal size of the trunk with rhizomelic micromelia (short proximal
extremities) (short limb dwarfism) >>> Disproportional short stature, and exaggerated
lumbar lordosis
•Normal mentality
Small bony opening:
•Spinal cord compression
•Eustachian tube obstruction
•Hydrocephalus (large head)

Marfan syndrome:

•AD >>> singel gene disorder >>> disorder is at gene level (not the whole chromosome)
•Defect in gene coding fibrillin >>> >>> Defect in connective tissue >>>
cardiovascular, ocular and skeletal abnormalities
•Long thin digits (fingers), Arachinoductly ‫االصابع رقيقات وطوال‬, Arm Span
•Scoliosis, Kyphosis ,hyperextensible joints, Dolicostenomelia ‫االيدين رقيقات وطوال‬
•High arched palate
•Sever myopia , cataract
•Most Common heart abnormality is progressive aortic dilatation this may result in
dissecting aneurysm
• aortic sinus dilatation >>> AR
•Mitral valve prolapse and mitral valve regurge
•Most common dangerous CX >>> Aortic rupture
Note: beta blocker (inderal) >>> is used in marfan syndrome >>> reduces cardiac
complications

•thump sign (Steinberg sign)

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•Wrest sign (the walker murdoch sign)

Homocysteineurea :
•deficiency of the enzyme that converts homocysteine amino acid into cystathionine
>>> accumulation of homocysteine >>> mental retardation, eye problems, skeletal
abnormalities ,stroke (premature atherosclerosis)
• These problems can be prevented or diminished by a special diet free from
homocysteine and high doses of vitamin B6 or B12.

Note: B6 and B12 are cofactors of that enzyme

DDx of MI & Stroke in paediatrics:

1. Homocysteine urea 2. SCA 3. Leukemia 4. Kawasaki

DDX of tall stature :

1. Marfan 2. Homocysteine urea 3. Thyrotoxicosis 4. 21 hydroxylase I in male

William syndrome:
•mental retardation
•supravalvular aortic stenosis
• peripheral pulmonary stenosis (stenosis in left or right pulmonary artery)
• hypercalcemia >>> constipation

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 ⬇ ⬆

Mucopolysaccharidosis:

•Type I ( hurler syndrome )( A.R )

•Type II (hunter Syndrome) (X-linked recessive)

• Lysozyme >>> mucopolysaccharide >>> in brain >>> M.R, in eye >>> glaucoma &
cataract, in liver & spleen >>> HSM, in Ant. abdominal wall >>> U.H
•M.R & developmental delay

•Type I >>> Cloudy Cornea ( blindness )

• Type Il >>> Normal eye

Features:
1. Coarse features 2. Claw hand 3. Umbilical hernia 4. Abd. Distension 5. Square
shaped vertebra

Accessory nipple :
•Asses with renal anomalies & ear anomalies

An encephaly:

•Partial or Complete absences of skull, meninges & cerebral hemisphere

•Primitive reflexes are intact due to these reflexes are subcortical
•Can be diagnosed by alpha fetoprotein & USS prenatally
•Still birth >>> Live few hours
•May ass' with Spina bifida

Cafe' au lait spots :

•Present in up to 20% of normal population but if more than 5 >>> Neurofibromatosis

Bilateral absence of Clavicle:

• Called cranio cleido dysostosis
•One of causes of wide A.F

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