Achondroplasia: Etiology, Clinical

Presentation, and Management

Allyson Daugherty, MSN, NNP

Continuing
Nursing Education Abstract
(CNE) Credit
By using a literature review, this article examines the implications of achondroplasia. The following
Attention Readers: The
test questions are provided in this areas are discussed: the clinical definition of the disease; the incidence, etiology, and pathogenesis;
issue, but the posttest and evaluation phenotypical characteristics and natural history of the disease; and management, recurrence risk, and
must be completed online. Details to genetic counseling. Lastly, implications for nursing in relation to achondroplasia are discussed.
complete the course are provided online
at academyonline.org/CNE. A total
of 1.4 contact hour(s) may be earned Keywords: achondroplasia (ACH); skeletal dysplasia; fibroblast growth factor receptor 3 (FGFR3);
as CNE credit for reading this article
and completing the online posttest
long bone growth; rhizomelic shortening
and evaluation. To be successful
the learner must obtain a grade of
at least 80% on the test. Test expires
three (3) years from publication date.
Disclosure: The author/planning

committee has no relevant financial
interest or affiliations with any
commercial interests related to the
subjects discussed within this article.
No commercial support or sponsorship
was provided for this educational
activity. ANN/ANCC does not
endorse any commercial products
discussed/displayed in conjunction
with this educational activity.
The Academy of Neonatal Nursing is
accredited as a provider of continuing
nursing education by the American
Nurses Credentialing Center ’s
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Provider, Academy of Neonatal
Nursing, approved by the California
B oard of R egis tered Nursing,
Provider #CEP 6261; and Florida
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3218, content code 2505.
The purpose of this article is to
provide a better understanding of
achondroplasia. This article can be a
useful resource when managing care
for a patient who has achondroplasia.
Accepted for publication
August 2017.
A
chondroplasia (ACH) is one of more
than 200 skeletal dysplasias that
affect the size and shape of the trunk, limbs,
and skull.1 Over the last 20 years, there have
been several advances in our understanding
of ACH, the most common form of skeletal
dysplasia.2 This literature review focuses on
how ACH is defined, the incidence rate, and
the etiology and pathogenesis of the disease.
The natural history of the disease and its phe-
notypical characteristics, management, recur-
rence risk, and genetic counseling options
are addressed with the goal of increasing the
knowledge base of ACH for care providers in
the neonatal setting.
DEFINITION OF THE
DISEASE AND INCIDENCE
Achondroplasia is the most common form
of skeletal dysplasia. It occurs in all races and
ethnicities.2,3 The word achondroplasia liter-
ally means “without cartilage.”2 Although
the literal translation means “without car-
tilage,” people with ACH do form normal
cartilage in appropriate places in the body;
however, during embr yologic develop-
ment, a mutation results in malformation
and undergrowth of cartilage and inhibits
proper ossification. These abnormalities and
malformations ultimately result in dispro-
portionate development of long bones.2 The
estimated incidence rate of ACH is approxi-
mately 1/15,000 – 40,000 live births. 2,4
Studies have also shown an increased inci-
dence rate with advancing paternal age.3
DISEASE ETIOLOGY
AND PATHOGENESIS
ACH is an autosomal dominant disorder;
however, 80 percent of cases are the result
of a new gene mutation. 2,4 The incidence
of new (sporadic) ACH cases are approxi-
mately 1/15,000–30,000 live births.5 ACH
is the result of a single nucleotide substitu-
tion (c.1138G.A) in the fibroblast growth
factor receptor 3 (FGFR3) gene on the
p arm (short arm) of the fourth chromosome
(4p16.3). 2,5,6 The c.1138G.A mutation is
one of the highest reportable mutable sites in
the human genome.5 Other disease-causing
mutations resulting in the single-nucleotide
substitutions have also been reported, such
as the G380R mutation and the glycine
375-to-cysteine substitution, but have not
been of clinical significance in rate of occur-
rence.6 The gene FGFR3 is responsible for
the production of the FGFR3 protein that
converts cartilage to bone. 2,7 All people

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 with a single copy of the mutated gene FGFR3 have ACH. FIGURE 1  ■  Radiograph of the upper limb of a two-year-old child
Although homozygous ACH does occur, it is a lethal con- with achondroplasia.
dition. 8 FGFR3 is the only known gene to be associated
with ACH.7
The normal process by which FGFR3 affects long bone
growth is through a negative feedback loop that controls the
differentiation of chondrocytes in the growth plate.6,9 When
a mutation occurs on the FGFR3 gene, it results in “over-
activation of the receptors causing premature chondrocyte
differentiation.”6,9 This causes the proliferation stage of the
chondrocytes to be shortened, which has a cascade effect
ultimately resulting in a decrease in the overall length of the
long bones.9
New studies are indicating the single-nucleotide mutation
may originate only on the paternal side; thus, as the father’s
age advances, the incidence of affected offspring increases
exponentially. This is known as the paternal age effect. 5
Unaffected fathers in their 50s are ten times more likely to
have offspring with a de novo ACH mutation when compared
to fathers in their 20s. A sperm analysis study conducted by
Shinde and colleagues5 and published in 2013, found that
the average frequency of sporadic ACH mutations in 117
healthy unaffected men ages 18–80 years was 1/35,714. The
de novo mutations that originate in unaffected fathers seem
Retrieved from http://radiopaedia.org
to indicate that this pathology is related to spermatogenesis.5

PHENOTYPE AND NATURAL HISTORY
At birth, the physical appearance of a neonate with
ACH will usually make this diagnosis obvious. Although
the infant’s head and torso appear generally normal in size,
extremities are disproportionately short. ACH causes the
humerus and femur to be disproportionately shorter than the
distal bones of arm and legs, respectively (Figure 1).2 As a
result, people with ACH are short in stature; average adult
height is 4 feet for both men and women.10 These propor-
tions are maintained throughout life. ACH does not affect
skin growth; therefore, shortened limbs result in an excess of
skin and soft tissues, forming extra creases and folds on the
arms and legs. The neck is also very short with an abnormal
connection between the posterior head and neck. Because
of this abnormal junction, the cervical portion of the spinal
cord can become compressed, resulting in disorders such as
sleep apnea.2 Infants also tend to have an increased propen-
sity for sudden infant death that may be attributed to the
malformed craniocervical junction or stenosis of the cervical
spinal cord as it exits the foramen magnum.2 Case reports
published in 1987 suggest that the risk of sudden death in
infants with ACH is 7.5 percent in infants less than one year
of age.11 A more recent review of mortality rates in infants
with ACH, published in 2014, identified a mortality rate in
the first year of life of 41.4/1,000 live births.12
Facial features are distinct and unique with prominent
frontal bossing and midline facial hypoplasia.2,7 Other physi-
cal manifestations include macrocephaly and short hands and
fingers, also referred to as a trident hand. Intelligence and
cognitive functions tend to be that of the general popula-
tion. 2,13 Infants born with ACH tend to have hypotonia.
Because of the hypotonia, motor skills and walking can be
delayed. During the fetal development period, limbs become
bowed and shortened secondary to the disturbance of endo-
chondral ossification at the epiphyseal cartilage plates, but
this does not occur until around the 22nd week of gestation.6
Because of this timing, initial prenatal ultrasounds often fail
to diagnose ACH. Therefore, de novo cases are often first
diagnosed during the third trimester when a fetal ultrasound
is ordered for another reason and short limbs and other fea-
tures such as trident hand and frontal bossing are noted.6
DIAGNOSIS
There are several skeletal dysplasias that may present in a
fashion similar to ACH (Table 1). In particular, conditions
such as osteogenesis imperfecta, hypophosphatasia, thanato-
phoric dwarfism, and hypochondroplasia should be consid-
ered in an infant presenting with short limbs.
ACH can be diagnosed through characteristics present on
clinical exam and through a series of radiographic films of the
long bones (see Figure 1).8 The clinician should determine
whether or not the infant’s limbs are proportionate or dispro-
portionate. Accurate measurements of the limbs and trunk
are important in making this determination.14 The pres-
ence of a large head is suggestive of ACH or thanatophoric

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 TABLE 1  ■  Skeletal Dysplasias that May Present in a Fashion Similar to Achondroplasia
Dysplasia Skeletal Features
Lethal
Achondrogenesis Soft cranium; round face; short,
type IB round chest; very short limbs
Achondrogenesis Large head, flat face with cleft
type II, palate; short trunk; very short
hypochondrogenesis limbs (micromelia)
Asphyxiating thoracic Normal face; narrow, long chest;
dystrophy variable limb shortening
Atelosteogenesis
Type I Flat face with cleft palate,
micrognathia; very narrow chest;
very short limbs (rhizomelic)
with equinovalgus deformities;
joint dislocations
Type II Cleft palate; narrow chest;
short limbs with dislocations;
equinovarus deformities; gap
between first and second digits
Campomelic Large cranium; small face with flat
dysplasia nose bridge, small chin (cleft
soft palate); small, narrow chest;
bowed thighs and legs, with
dimple on leg
Short-rib polydactyly
Types I and III Hydropic appearance; round, flat
face; micrognathia; extremely
narrow chest; very short limbs;
postaxial polydactyly
Types II and IV Hydropic; short face, flat nose,
cleft lip and palate; low-set
ears; narrow chest, protuberant
abdomen; moderately short limbs
Thanatophoric Large cranium; proptosis; flat nasal
dysplasia bridge; narrow chest; very short
Types I or II limbs (all segments)
Nonlethal
Achondroplasia Large cranium, frontal bossing,
flat nose bridge, short neck;
slightly narrow chest; proximal
limb shortening; short trident
hands, short proximal and
middle phalanges; joint laxity;
thoracolumbar kyphosis
Chondrodysplasia Hypoplasia of the distal phalanges;
punctata, X-linked severe hypoplasia of nose; short
recessive stature
Diastrophic dysplasia Normal cranium; cleft palate;
micrognathia; normal chest at
birth; very short limbs; thumbs
proximally placed and adducted
(hitchhiker thumb); severe
equinovarus of feet; limited
movement of many joints
Spondyloepiphyseal Flat face; cleft palate; short limbs
dysplasia congenita
Adapted from: Rimoin DL, Tiller GE. Skeletal dysplasias and connective tissue disorders. In: Gleason C, Devaskar S, eds, Avery’s Diseases of the Newborn,
9th ed., Philadelphia: Saunders, pp. 258–276, Copyright (2012), with permission from Elsevier.
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Nonskeletal Features
Polyhydramnios
Fetal hydrops; distended
abdomen
Lethal pulmonary insufficiency
Prematurity; stillbirth
Laryngeal stenosis; patent
foramen ovale
Polyhydramnios; congenital
cardiac abnormalities; female
external genitalia in XY males
Cardiac, renal, and anal
malformations
Cardiac, renal, and respiratory
malformations
Polyhydramnios; hydrocephalus;
brain anomalies; congenital
cardiac abnormalities
Hypotonia: delayed motor
milestones; spinal stenosis
causes spinal compression;
small foramen magnum can
cause hydrocephalus and
apnea
Cataracts; hearing loss; congenital
ichthyosis, anosmia, and
hypogonadism (in contiguous
gene deletion patients)
Cystic masses in auricles
(cauliflower ears) during
infancy; deafness caused
by lack or fusion of ossicles;
narrow external auditory
canal
Infancy: tracheomalacia;
Childhood: myopia and
retinal detachment, hearing
loss, normal intelligence
Radiographic Features
Poorly ossified calvarium; ribs short, with fractures
(beading); nonossified vertebrae; small pelvis;
short broad femurs with metaphyseal spikes, short
broad tibiae, and fibulae
Lack of vertebral mineralization; short limbs
(all segments); enlarged cranium with normal
ossification
Normal calvarium and vertebrae; very short ribs with
anterior cupping; short limbs with wide proximal
femoral metaphyses; premature ossification of
proximal femoral epiphysis
Flat vertebrae with coronal and sagittal clefts; scoliosis;
short ribs (11 pairs); small pelvis with enlarged
sacrosciatic notch; short limbs; “drumstick” humeri
and femurs; absent fibulas; short metacarpals,
triangular first metacarpals; dislocated knees
Occasional coronal and sagittal vertebral clefts; short
ribs; normal sacrosciatic notch; short “dumbbell”
humeri and femurs, small fibulas; large second
and third metacarpals; small round midphalanges
Large dolichocephalic calvarium with shallow orbits;
short and wavy ribs, often 11 pairs; hypoplastic
scapula; small, flat vertebrae; tall, narrow pelvis;
relatively long, thin limbs with bent femurs and
short tibiae
Normal calvarium; very short, horizontal ribs; flat,
wide, intervertebral disc spaces; small pelvis; short
limbs with lateral and medial metaphyseal spurs
Very short, horizontal ribs; normal pelvis and
vertebrae; short limbs with round metaphyses;
premature, epiphyseal ossification; polydactyly
Large calvarium, short base, small foramen magnum,
cloverleaf skull (Type II); short, splayed, cupped
ribs; small, very flat, U-shaped vertebrae; short,
small, flat pelvis; short, bowed limbs; metaphyseal
flare with spike
Large calvarium, small foramen magnum, short base;
diminished lumbosacral interpedicular space,
short pedicles; short ribs with anterior cupping;
short humeri and femurs; relatively long fibulas;
metaphyseal flare; small iliac wings
Distal phalangeal hypoplasia; stippled epiphyses of
long bones; paravertebral stippling
Premature ossification of rib cartilage; narrow
L1–L5 interpedicular spaces; scoliosis; short
limbs; disproportionately short ulna and fibula
(mesomelia); broad, flared metaphyses; ovoid first
metacarpals; variable symphalangism of proximal
interphalangeal joints
Frontal and maxillary hypoplasia; flat vertebrae;
small pelvis with irregular, acetabular roof; short
limbs; normal hands and feet
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 dwarfism, whereas the presence of short trident-shaped hands
is more characteristic of ACH. The presence of other con-
genital anomalies such as congenital heart disease or cataracts
is suggestive of syndromes other than ACH.14
More difficult to distinguish from ACH is hypochondro-
plasia. This is a milder form of ACH and lacks the neurologic
complications seen in ACH.15
In those individuals who present with typical clinical and
radiographic findings of ACH, molecular confirmation of the
diagnosis is generally not necessary. However, if there is any
degree of uncertainty, such as difficulty differentiating ACH
from hypochondroplasia, targeted mutation analysis for the
common mutation should be performed. 8,10 In the case
where the mutation analysis is negative and radiographic and
clinical presentations remain inconclusive, a sequence analysis
can be performed.8
COMPLICATIONS OF ACHONDROPLASIA
Infants with ACH are prone to several medical and neuro-
logic complications. Up to 60 percent of infants will develop
at least one episode of otitis media, and 16 percent will require
ventilation tubes. Two percent will require a shunt secondary
to hydrocephalus. A small rib cage can result in restrictive
pulmonary disease in infants and can be exacerbated by gas-
trointestinal reflux and swallowing dysfunction. Apnea is
reported in up to 8 percent of infants and cervicomedullary
compression in 58 percent. Cervicomedullary compression
results from the presence of a small foramen magnum and
can result in cord compression and cervical myelopathy.13
In toddlers, the incidence of otitis increases to 93 percent,
with 68 percent of those children requiring ventilation tubes.
Hearing loss and speech delay are reported in 17 percent of
children up to five years of age.13 A small upper airway results
in .50 percent of individuals with ACH having obstructive
sleep apnea.13
Psychosocial problems are not uncommon in children
with ACH and include issues related to peer acceptance and
being treated in a manner appropriate to their age rather
than their height.13 These issues are especially acute in the
adolescent period.
MANAGEMENT OF ACHONDROPLASIA
Pregnancy Management
Sporadic mutations resulting in a prenatal diagnosis of
ACH to parents of normal stature are considered low risk.8
However, a pregnancy is considered high risk if a childbear-
ing mother has ACH regardless of whether or not the fetus
has been diagnosed with ACH. It is recommended that
women with ACH who are pregnant undergo amniocentesis
between 15 and 18 weeks’ gestation or chorionic villus sam-
pling (CVS) between 10 and 12 weeks’ gestation.8 However,
the disease-causing allele of the affected parents must be
identified before prenatal testing can occur.8 Mothers with
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ACH should deliver by cesarean section because of a small
pelvis-to-head size ratio.8
Guidelines for health supervision of children with
ACH have been established by the American Academy of
Pediatrics (AAP). These are available at http://pediatrics.
aappublications.org/content/116/3/771. According to
the A AP, the prenatal visit should provide counseling by
the pediatrician and/or the geneticist to discuss the natural
history of ACH.10
Postnatal Management
When the neonate has been stabilized following delivery,
the clinician should order a radiographic study of the bones
to confirm the diagnosis. The nurse should also obtain and
document measurements, including occipital-frontal circum-
ference (OFC) (which should be monitored regularly at every
pediatric appointment for the first year), body length, and
body weight and plot these measurements on ACH-specific
growth charts.10 A baseline computerized tomography scan
is also recommended for comparison of foramen magnum
size with published ACH standards.10 Once a diagnosis has
been made, the findings should be discussed with the parents
and any questions that they may have should be answered.
If the radiographic results are inconclusive, genetic testing
should be considered.
Treatments of Manifestations
As a result of the specific anatomy of an individual with
ACH, craniocervical junction compression could result in the
need for suboccipital decompression. A ventriculoperitoneal
shunt may also be required for increased intracranial pressure
secondary to craniocervical junction compression. Correction
of obstructive sleep apnea may be necessary by using con-
tinuous positive airway pressure. Adenotonsillectomy may be
necessary, or in rare cases, a tracheostomy must be done to
ensure a patent airway.8 Other areas of possible consideration
for continued monitoring include management of middle-ear
dysfunction because individuals with ACH are more prone to
developing ear infections. Most patients require orthopedic
surgeries for reasons that will be discussed later in this article.
In addition, parents will need ongoing education and social-
ization support for children of school age.8
Surveillance and Long-Term Management
Clinical manifestations of ACH can vary widely. To gain
a full understanding of the extent of the disease, a genetics
consultation with a physician who specializes in caring for
children with bone dysplasia is recommended. Throughout
childhood, the patient’s height, weight, and head circum-
ference should be monitored and graphed using growth
curves standardized for people with ACH.8 Close evalua-
tion of developmental milestones throughout infancy and
childhood is necessary. 8 Infants and young children with
ACH have demonstrated delayed motor and communication
development, particularly within the first two years of life.16
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 In addition, these children experience delayed development
of independent self-care skills and need assistance with com-
pletion of everyday tasks beyond the first seven years when
compared to children of the same age who do not have
ACH.17 For example, rhizomelic (proximal limb) shorten-
ing leads to reduced elbow and hip extension range, which
results in the inability of the child to reach the top of the
head, the mid-back, and perineal areas. A study published by
Ireland and colleagues18 in 2013 found that although there is
no statistically significant correlation among height, weight,
and the degree of macrocephaly of individuals with ACH on
most gross motor skills before the age of five years, infants
with ACH do exhibit a delay in developing the “lie to sit”
position. Infants who are relatively taller than their ACH
peers were more likely to transition from a lying position to
a sitting position earlier in development than children who
were smaller.18
Other baseline tests should be performed, including a
baseline CT scan of the brain early in infancy so that any
changes and manifestations that may occur throughout
childhood, early adulthood, and adulthood can be more
easily monitored. Continued monitoring for clinical pre-
sentation of kyphosis and genu varum is necessary, as these
can result in orthopedic surgeries such as hip replacement,
laminectomy, and spinal fusion.8,10 People with ACH may
undergo numerous orthopedic surgeries throughout their
lifetime. It is also recommended that a neurologic exam and
consultation be done every three to five years to screen for
spinal stenosis.8
RECURRENCE RISK AND
GENETIC COUNSELING
As previously stated, ACH is an autosomal dominant dis-
order.8 Thus, penetrance is 100 percent for all individuals
who have a single copy of one of the FGFR3 gene mutations.8
Approximately 80 percent of individuals with ACH have
parents of normal stature; therefore, a child with ACH
is the result of a de novo gene mutation.8 Parents who are
of normal stature are at a low risk of having a second child
with ACH. However, a person who has ACH whose repro-
ductive partner is of normal stature will have a 50-percent
risk with each pregnancy that the child will have ACH.8 For
those families who have identified the disease-causing muta-
tion, preimplantation genetic diagnosis may be an option to
confirm whether or not the offspring will have the autosomal
dominant disorder.8
In comparison, if both parents have ACH, the risk of
their offspring having normal stature is 25 percent, the
risk of having offspring who are homozygous is 50 percent,
and 25 percent of offspring will have heterozygous ACH.
Homozygous ACH is considered a lethal condition because
the two mutant alleles result in respiratory insufficiency
caused by a small thoracic cage and neurologic deficits as a
result of cervicomedullary stenosis.8 Genetic counseling for
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parents who have ACH or parents who are at risk for having
an offspring with ACH, such as fathers who are of advanced
paternal age, is highly encouraged.5,8
IMPLICATIONS FOR NURSING
Areas of consideration to discuss with parents upon
initial diagnosis include the following: autosomal dominant
inheritance versus new mutations, most individuals with
ACH have normal intelligence and normal life expectancy,
growth hormones and other drug therapies do not signifi-
cantly increase stature, and the importance of using ACH-
appropriate growth charts.10 It is also important to explain
the benefits of anticipatory guidance and the opportunity to
learn from other families with children of disproportionate
stature. Parents of a child who has been diagnosed with ACH
should receive information concerning the increased risk of
sudden infant death syndrome; the development of hydro-
cephalus within the first two years of life, including the signs
and symptoms to watch for (thus, the importance of OFC
monitoring); and the possibility of developing restrictive pul-
monary disease.10 Although restrictive pulmonary disease is
rare, children living at high elevations are at an increased risk
of developing the disease. In addition, parents need to know
how to monitor their child for thoracolumbar kyphosis and
spinal stenosis.10 Severe kyphosis is associated with unsup-
ported sitting; therefore, parents should be counseled to
avoid devices such as umbrella strollers and soft canvas seats
for at least the first year of life.10
Most importantly, parents need support. Encourage them
to share with family and friends and provide recommenda-
tions for resources such as social workers, psychologists,
trusted websites, books, and organizations like Little People
of America (http://www.lpaonline.org/).10
SUMMARY
Over the past 20 years, the understanding of ACH has
increased through multiple studies, allowing the advance-
ment of diagnosis and management of ACH. Because of
these advancements, children diagnosed today have a better
chance to lead normal and successful lives.
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About the Authors
10. Trotter TL, Hall JG. Health supervision for children with achondroplasia. Allyson Daugherty, MSN, NNP, has been a NICU nurse in a Level
Pediatrics. 2005;116(3):771-783.
IV NICU for the past four years. She recently started a neonatal nurse
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practitioner fellowship at the Children’s Hospital Colorado.
achondroplasia. Am J Hum Genet. 1987;41(3):454-464.
12. Simmons K, Hashmi SS, Scheuerle A, Canfield M, Hecht JT. Mortality
in babies with achondroplasia: revisited. Birth Defects Res A Clin Mol
Teratol. 2014;100(4):247-249. For further information, please contact:
13. Groves ML, Ahn ES, Ain MC, Jallo GI. Achondroplasia and other Allyson Daugherty, MSN, NNP
dwarfisms. In: Winn R, ed. Youmans and Winn Neurological Surgery. Regis University
7th ed. Philadelphia, PA: Elsevier; 2017:1871-1880. Rueckert-Hartman School for Health Professions
14. Rimoin DL, Tiller GE. Skeletal dysplasias and connective tissue disorders. 21366 East Stroll Avenue
In: Gleason C, Devaskar S, eds. Avery’s Diseases of the Newborn. 9th ed. Parker, CO 80138
Philadelphia, PA: Elsevier Saunders; 2012:258-276. E-mail: Allyson.daugherty14@gmail.com

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1. Shankaran, Seetha, et al. “Outcomes of Safety & Effectiveness in a Multicenter Randomized, Controlled Trial of Whole-Body
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