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KK Paediatric Genetics disorders, Metabolic disorders, Syndromes study > Syndromes and Genetics > Flashcards

Syndromes and Genetics Flashcards

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1
Q

Prevalence of Noonan syndrome?

A

1 in 1000-2500

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2
Q

What gene is involved in pathogenesis of Noonan syndrome?

A

• DNA testing for several mutations in the RAS-MAPK signaling pathway will show mutations responsible for Noonan syndrome • Gene panels are available, 50% have muta- tions in the tyrosine phosphatase (PTPN11) gene on chromosome 12

AD inheritance

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3
Q

What are the developmental abn with noonan syndrome?

A

Mild ID (IQ range 64–127, median 102), speech differences

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4
Q

What behavioural abn are associated with noonan syndrom?

A

Stubbornness, mood disorders, rare autistic manifestations

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5
Q

What growth abn are associated with noonan syndrome?

A

Frequent failure to thrive, feeding difficulties, later proportionate and mild short stature (50%)

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6
Q

What neural abn are associated with noonan syndrome?

A

Motor delays, vision deficits, hearing loss (usually conductive)

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7
Q

Describe the connective tissue dysplasia associated with noonan syndrome?

A

Scoliosis, pectus (upper carinatum, lower excavatum), joint laxity, lax skin, bleeding diathesis

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8
Q

Describe the eye, cardiac, and urological abn associated with noonan syndrome

A

Eye (strabismus), cardiac (pulmonic stenosis, septal defects, hypertrophic cardiomyopa- thy), urogenital (obstructive uropathy, crypt- orchidism) defects

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9
Q

Describe the lymphatic abn associated with noonan syndrome

A

Pulmonary lymphangiectasia, chylothorax, non-immune hydrops

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10
Q

Describe tumours associated with noonan syndrome

A

Pheochromocytoma, ganglioneu- roma, juvenile myelomonocytic leukemia (often with PTPN11 gene rearrangements/ amplification)

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11
Q

Described the minor abn associated with noonan syndrome

A

• Short, webbed neck • Low posterior hairline • Ptosis, down-slanting palpebral fissures • Low-set or abnormal pinna (“jug-handle” ears) • Cubitus valgus, single palmar creases • Edema of the hands and feet

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12
Q

Describe the health supervision and preventative care with noonan syndrome

A

• Neonatal hearing screen, renal sonogram, ophthalmology, cardiology referrals • Monitor thyroid, renal functions; regular car- diac monitoring for aortic and valve changes • Cervical spine radiographs before sports, anesthesia

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13
Q

What abnormality does this infant have?

A

Short webbed neck of an infant with Noonan syndrome

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14
Q

What is the prevalence of Waardenburg Syndrome?

A

Prevalence: About 1 in 40–50,000 births, hav-
ing a 1.4% incidence in congenitally deaf
children

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15
Q

What gene mutations are involved in Waardenburg syndrome?

A

• Like Noonan syndrome, an array of different gene mutations (PAX3, MITF, EDN3, etc.) and subtypes have been described, all except some cases of type IV exhibiting autosomal dominant inheritance

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16
Q

Waardenburn syndrome involves abnormal neural crest development, accounting for…?

A

pigmentary changes and, in some cases, Hirschsprung disease

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17
Q

What developmental abn occur in Waardenburg syndrome?

A

Development: Mild cognitive delays that can
be related to the hearing loss

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18
Q

What neural abn are associated with Waardenburn syndrome?

A

• Neural: Sensorineural hearing loss, nonprogres-
sive, unilateral or bilateral, due to hypoplasia of
structures in the organ of Corti and semicircular
canals (evident on head computed tomography)

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19
Q

What eye abn are associated with Waardenburg syndrome?

A

• Eye: Iris pigmentary abnormality—hetero-
chromia (eyes of different colors), bicolored
iris, pale blue eyes with hypoplastic iridic
stroma, hypopigmented fundus, peripheral
retinal pigmentation

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20
Q

What hair abn are associated with Waardenburg syndrome?

A

• Hair: Hypopigmentation with poliosis (white
forelock), white hairs on other body regions,
premature graying

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21
Q

What facial abn are associated with Waardenburg syndrome?

A

• Face: Medial flare of bushy eyebrows, dysto -
pia canthorum (lateral displacement of inner
canthi), high and broad nasal bridge with
hypoplastic alae nasae

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22
Q

What other abn are associated with waardenburn syndrome?

A

• Cardiac, skeletal, and urogenital defects
occur in some

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23
Q

What health supervision and preventive care is warranted in waardenburg syndrome?

A

• ENT and audiology team after diagnosis,
deaf community and physician team discus-
sion of cochlear implant and hearing aid
options
• Alertness for symptoms of cardiac, skeletal,
and GI defects

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24
Q

What is the prevalence of Treacher Collins Syndrome?

A

1 in 50, 000 births

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25
Q

What is the gene defect in Treacher Collins Syndrome?

A

Targeted DNA testing or whole exome
sequencing will show a mutation in the trea-
cle (TCOF1) gene in the chromosome
5q31.3q32 region

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26
Q

What is the inheritance pattern for treacher collins syndrome?

A
  • Autosomal dominant inheritance pattern with 50% transmission risk in affected individuals
  • Most severe cases are new mutations
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27
Q

What might treacher collins be mistake for?

A

• Confusion with the low genetic risk Goldenhar
syndrome/association may also occur if eye
and malar changes are not dramatic

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28
Q

What developmental abn are associated with treacher collins syndrome?

A

• Development: ID (5%), usually normal unless
compromised by unrecognized hearing loss

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29
Q

What growth abn are associated with treacher collins syndrome?

A

• Growth: Early failure to thrive because of
feeding difficulties, airway abnormalities

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30
Q

What neural abn are associated with treacher collins syndrome?

A

• Neural: Conductive deafness due to ear
anomalies

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31
Q

What craniofacial abn are associated with treacher collins syndrome?

A

• Craniofacial: Mandibulofacial dysostosis with
underdeveloped mandibular and zygomatic
bones causing small jaw and malar hypopla-
sia, projection of scalp hair onto lateral cheek

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32
Q

What ENT abn are associated with treacher collins syndrome?

A

• ENT: Choanal atresia, pharyngeal hypoplasia
with macro- or microstomia, cleft palate,
external and middle ear anomalies with canal
stenosis and ear tags

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33
Q

What is the prevalence of Craniosynostosis syndromes?

A

• Prevalence: 4–6 per 10,000 births if primary
and secondary synostosis are included; cra-
niosynostosis syndromes range from 1 in
25,000 (Saethre-Chotzen) to 1 in 100,000
births (Apert) or rarer

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34
Q

What is craniosynostosis?

A

• Craniosynostosis refers to premature fusion
of cranial sutures, often causing abnormal
head shape
• Can have primary (ossification defect) or sec -
ondary causes (failure of brain growth, rickets)

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35
Q

Is craniosynostosis a primary or syndromic pathology?

A

• Occurs as an isolated defect or as part of over
90 syndromes

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36
Q

What are the types of craniosynostosis?

A

– Scaphocephaly: Early fusion of sagittal
sutures, long and narrow head shape

– Anterior plagiocephaly: Early fusion of
one coronal suture, unilateral flattening of
the forehead
– Posterior plagiocephaly: Early closure of
one lambdoid suture
– Brachycephaly: Early bilateral coronal
suture fusion
– Trigonocephaly: Early fusion of metopic
sutures, keel-shaped forehead and
hypotelorism
– Turricephaly: Early fusion of coronal,
sphenofrontal, and frontoethmoidal
sutures, cone-shaped head
– Clover-leaf skull or Kleeblattschädel
anomaly

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37
Q

What syndromes involve craniosynostosis?

What mode of inheritance do these have?

A

• Syndromes involving craniosynostosis (coro-
nal synostosis most common, but any suture
can be involved)
– Apert syndrome: Craniosynostosis, hand
syndactyly
– Crouzon syndrome: Craniosynostosis, no
limb defects
– Pfeiffer syndrome: Craniosynostosis,
broad thumb and toes
– Saethre-Chotzen syndrome: Craniosynos-
tosis, often asymmetrical, brachydactyly
and syndactyly
– Carpenter syndrome: Tower or clover-leaf
skull due to multiple fused sutures, preax-
ial polydactyly, obesity

• All syndromes but Carpenter (autosomal reces-
sive) exhibit autosomal dominant inheritance.

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38
Q

What is the recurrance risk for isolated craniosynostosis?

A

• Isolated craniosynostosis, like other single
birth defects, exhibits multifactorial determi-
nation with 3–5% recurrence risk

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39
Q

What genetic defects are associated with craniosynostosis?

A

• Mutations in specific genes have been defined
for the major syndromes, often in fibroblast
growth factor receptor (FGFR) genes

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40
Q

In subsequent pregnancies, can craniosynostosis be detected?

A

• Specific gene testing or gene panels can pro -
vide a molecular diagnosis with options for
prenatal diagnosis in subsequent
pregnancies

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41
Q

What developmental abn are associated with craniosynostosis

A

surgical release of craniosynostosis can prevent ID, but IQ often in 70-74 range

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42
Q

What neural abn associated with craniosynostosis?

A

restriction of brain growth, increased ICP causes ID, visual, and hearing defects

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43
Q

What cranial abn are associated with craniosynostosis?

A

Abnormal shape for various suture fusions

• Plagiocephaly occurs with asymmetric syn-
ostosis; mild cases due to uterine constraint
must be distinguished

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44
Q

What facial abn are associated with craniosynostosis?

A

midface hypoplasia, palatal clefts, jaw changes

• Early airway obstruction may require
tracheostomy

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45
Q

What eye abn are associated with craniosynostosis?

A

• Eye: Shallow orbits, exophthalmos/ocular
proptosis, exposure keratitis due to sphenoi-
dal synostosis

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46
Q

What bone, heart and limb defects are associated with craniosynostosis?

Do limb defects give a clue for the cause?

A

• Cervical vertebral, cardiac, and limb defects
often occur
• Types of limb defects rather than the involved
suture(s) guide craniosynostosis syndrome
diagnosis

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47
Q

What health supervision and preventative care measures should be placed for patients with craniosynostosis?

A

• Most craniosynostosis conditions are evident
at birth and require immediate involvement of a craniofacial team to prevent cognitive and
sensory deficits
• Craniofacial surgery team evaluation, includ-
ing neurosurgery, ophthalmology, ENT, and
cleft palate expertise
• Monitoring of hearing, vision, and develop-
ment is critical in the more severe
syndromes

48
Q

What is scaphocephaly?

A

– Scaphocephaly: Early fusion of sagittal
sutures, long and narrow head shape

49
Q

What is anterior plagiocephaly?

A

– Anterior plagiocephaly: Early fusion of
one coronal suture, unilateral flattening of
the forehead

50
Q

What is posterior plagiocephaly?

A

– Posterior plagiocephaly: Early closure of
one lambdoid suture

51
Q

What is brachycephaly?

A

– Brachycephaly: Early bilateral coronal
suture fusion

52
Q

What is trigonocephaly?

A

– Trigonocephaly: Early fusion of metopic
sutures, keel-shaped forehead and
hypotelorism

53
Q

What is turricephaly?

A

– Turricephaly: Early fusion of coronal,
sphenofrontal, and frontoethmoidal
sutures, cone-shaped head

54
Q

Prevalence of achondroplasia?

A

1 in 16,000 - 25,000

Most common type of short limb dwarfism, involving rhizomelic hypoplasia

• Skeletal radiologic survey to define affected
bone regions can tailor the differential of
skeletal dysplasia, often suggesting the diag-
nosis of achondroplasia by its typical spine
and hip changes

55
Q

What genetic mutations and inheritance pattern is seen with achondroplasia?

A

• Specific mutation in fibroblast growth factor
receptor 3 (FGFR3) gene on chromosome
• Other mutations in this gene cause severe
thanatophoric dwarfism or milder hypo -
chondroplasia
• Autosomal dominant inheritance with a 50%
recurrence risk for affected individuals
• More than 80% of patients are due to new
mutations

56
Q

what abn in lifespan are seen with achondroplasia?

A

• Lifespan: Sudden infant death in 5% and
depression common

57
Q

What developmental abn are seen in achondroplasia?

A

• Development: Normal if complications like
hearing loss or cervical cord compression are
prevented, motor milestones often lag by
3–6 months because of macrocephaly and
early hypotonia

58
Q

What growth abn are seen in achondroplasia?

A 
• Growth: Short stature with males averaging 
130 cm (~4 ft-2) and females 123 cm (4 ft)
59
Q

what neural abn are associated with achondroplasia?

A

• Neural: Altered cerebrospinal fluid (CSF) cir-
culation, cord compression, conductive and
sensorineural hearing loss

60
Q

what cranial abn are associated with achondroplasia?

A

• Cranial: Macrocephaly, platybasia, narrow
foramen magnum, maxillary hypoplasia

61
Q

what facial abn are seen with achondroplasia?

A

• Face: Frontal bossing, myopia, shallow nasal
bridge, myopia, chronic otitis media

62
Q

What respiratory abn are seen with achondroplasia?

A

• Respiratory issues: Due to small chest, upper
airway obstruction, and sleep-disordered
breathing

63
Q

what skeletal abn are associated with achondroplasia?

A

• Skeleton: Rhizomelic limbs causing extra
skin folds, cervical spine fusion,
kyphoscoliosis, joint laxity leading to
arthritis and injuries, splayed fingers (trident
hands)

64
Q

what genital abn are associated with achondroplasia?

A

• Genital: Uterine fibroids, menorrhagia, nar-
row pelvis requiring cesarean delivery

65
Q

What heath supervision and preventive care should be in place for pts with achondroplasia?

A

• Monitor for feeding difficulties and apnea
• Infantile respiratory and sleep evaluations,
anesthesia precautions
• Childhood ophthalmology, ENT, and ortho-
pedic follow-up

• Somatosensory potentials to measure trans-
mission through foramen magnum, and check
for cord compression
• Flexion-extension radiography to assess cer-
vical instability/respiratory obstruction
• Management controversies include use of
decompressive surgery for cervical cord com-
pression, limb- lengthening procedures, and
growth hormone therapy as many have poor
response

66
Q

Prevalence of Marfan syndrome?

A

1 in 1000 - 2500

67
Q

Marfan syndrome is grouped by McKusick as?

A

Heritable disorders of connective tissue

68
Q

What mutation is involved in Marfan syndrome?

A

• Criteria developed for clinical diagnosis are
less important now that targeted DNA testing
will demonstrate mutations in the fibrillin-1
(FBN1) gene on chromosome 15

69
Q

What are practical clinical criteria for Marfan syndrome?

A

• Practical clinical criteria involve one major
finding (eye or heart) along with several
minor findings (e.g., Marfanoid
habitus, arachnodactyly maneuvers, skin
changes)

70
Q

What mode of inheritance is Marfan syndrome?

A

• Marfan syndrome exhibits autosomal domi-
nant inheritance with an equal sex ratio and
variable expression

71
Q

What lifespan abn is assocaited with Marfan syndrome?

A

• Lifespan: The major cause of death is aortic
dissection, preventable by beta-blocker or
losartan therapy

72
Q

What development abn are associated with marfan syndrome?

A

• Development: Normal with occasional verbal
performance discrepancy and visual attention
problems

73
Q

What growth abn are associated with Marfan syndrome?

A

Tall stature, low upper to lower segment ratio, thin and fragile habitus

74
Q

what neural abn are associated with marfan syndrome?

A

dural ectasia, sacral meningocele, anterior or posterior disc herniation

75
Q

what cranial abn are assocaited with marfan syndrome?

A

dolichocephaly, prominent supraorbital ridges, temporomandibular joint disease

76
Q

what eye defects are associated with marfan syndrome?

A

ectopic lentis, myopia, retinal detachment

77
Q

what cardiac abn are associated with marfan syndrome?

A

aortic enlargement, mitral valve dysfunction and prolapse, arrhythmias, aneurysms of the aorta or pulmonary artery

78
Q

what pulmonary abn are associated with marfan syndrome?

A

reduced vital capacity, spontaneous pneumothorax, emphysema

79
Q

what skeletal abn are associated with marfan syndrome?

A

scoliosis, spondylolisthesis, flat feet, joint laxity

80
Q

What is arachnodactyly (assoc with marfan syndrome)?

A

evidenced by ability to perform the Walker-Murdoch (overlap of thumb-5th finger when encircling the wrist) and Steinburg (protruding thumb beyond ulnar hand border with clenched fist) signs

81
Q

what epidermal abn are associated with marfan syndrome?

A

atrophic striae (stretch marks), recurrent incisional hernias

82
Q

what hematologic abn are associated with marfan syndrome?

A

clotting tendency, renal vein thrombosis

83
Q

What health supervision and prevantive cares should be in place for pts with marfan syndrome?

A

• Cardiology and ophthalmology evaluations
when diagnosis suspected
• Monitoring of aortic root size at intervals dic-
tated by symptom severity (6 months to
3–4 years), often accompanied by beta-
blockers or losartan therapy
• Activity and physical therapy to strengthen mus-
cles with frequent prohibition of collision sports

84
Q

Prevalence of Ehlers-Danlos Syndrome?

A

• Prevalence: Listed as 1 in 5000 births for all
types but much more common if patients with
more subtle joint laxity/hypermobility and
skin elasticity are included

• 20% of women, 10% of men are hypermobile
defined by scores > 4–5 on the 9-point
Beighton scale

85
Q

Early recognition or diagnosis of Ehlers Danlos is good because?

A

• Early recognition of hypermobility can guide
activities that prevent adolescent injury and
early arthritis
• Diagnosis allows treatment of associated
autonomic imbalance (tachycardia, chronic
fatigue, bowel issues)

86
Q

Associated autonomic imbalance in Ehlers-Danlos lead to?

A

• Associated autonomic imbalance (dysauto-
nomia) leads to treatable postural orthostatic
tachycardia (POTS), low bowel motility/irri-
table bowel syndrome (IBS), and mast cell
activation disorder (MCAD)

87
Q

Non-specific diagnosis such as […] are often due to Ehlers-Danlos with dysautonomia

A

fibromyalgia,
chronic fatigue syndrome, and serum-nega-
tive rheumatoid arthritis

88
Q

Diagnostic criteria for Ehlers Danlos?

A

• Diagnostic criteria less important in era of
genomic testing, but a practical approach
could include:
– For classical or hypermobile EDS:
◦ Major criteria: Joint hypermobility and
skin elasticity/scarring
◦ Minor criteria: Smooth/velvety skin and
joint subluxation/injury
– For vascular EDS:
◦ Major criteria of typical “tight, chiseled
face,” arterial aneurysm/dissection and/
or bowel rupture
◦ Minor criteria of translucent skin, mus-
cle/joint rupture

89
Q

Lifespan abn assoc with Ehlers Danlos?

A

• Lifespan: Generally normal with the excep-
tion of vascular EDS

90
Q

Developmental abn assoc w/ Ehlers Danlos?

A

• Development: Early motor delays, normal
cognitive function, anxiety, depression from
chronic pain

91
Q

Growth abn assoc w/ Ehlers Danlos?

A

• Growth: Early colic and failure to thrive due
to low bowel motility/IBS; eosinophilic
esophagitis (MCAD)

92
Q

CNS abn assoc w/ Ehlers Danlos?

A

• Central nervous system: Migraines, chronic
daily headaches, Chiari deformation, fragile
dura contributing to CSF leaks

93
Q

peripheral nervous abn assoc w/ Ehlers Danlos?

A

• Peripheral nerves: Carpal-tunnel syndrome,
chronic regional pain syndromes

94
Q

Joint abn assoc w/ Ehlers Danlos?

A

• Joints: Hypermobile with subluxations, liga-
ment/tendon tears, osteoarthritis, plica bands,
areas of dead bone

95
Q

Skin abn assoc w/ Ehlers Danlos?

A

• Skin: Elastic, thin and translucent, easy bruis-
ing, striae, white-surfaced and keloid scars,
slow healing

96
Q

Face abn assoc w/ Ehlers Danlos?

A

• Face: Distinctive only in some with vascular
EDS—bulging eyes, thin nose and lips due to
tight skin

97
Q

Eye, GI and skeletal abn assoc w/ Ehlers Danlos?

A

• Eye (myopia, retinal detachment); mouth
(dental, temporomandibular joint [TMJ]
issues); GI (IBS, low motility); cardiovascu-
lar (tachycardia, valvular prolapse, aneu-
rysm); skeletal (kyphoscoliosis, flat feet,
herniated disc) defects

98
Q

what allergy and pulmonary abn assoc w/ Ehlers Danlos?

A

• Allergy/pulmonary: Frequent asthma/short-
ness of breath, food and medication intoler-
ances, transient rashes/hives, anaphylaxis,
spontaneous pneumothorax

99
Q

Urogenital abn assoc w/ Ehler Danlos?

A

• Urogenital: Pelvic congestion with menor-
rhagia, endometriosis, ovarian cysts; hyper-
active bladder with increased urinary tract
infections, bladder and uterine prolapse

100
Q

Health supervision and preventive care in Ehlers Danlos?

A

• Usual diagnosis as teen or young adult—car-
diology, orthopedic, GI, allergy/mast cell
referrals with monitoring for joint pain/injury,
tachycardia, fatigue, anxiety, constipation/
diarrhea, reflux, allergy, skin reactivity
• Evaluate for head and neck pain, especially
posterior, and consider upright head magnetic
resonance imaging (MRI) study for Chiari
• Encourage swimming and light weight lifting
rather than running
• POTS treated with hydration, salt, high pro-
tein diet, medications (beta-blockers, mido-
drine, fludrocortisone)
• Mast cell activation treated by allergists with
antihistamine protocols (triple-drug therapy:
cetirizine/ranitidine/montelukast)

101
Q

Prevalance of osteogenesis imperfecta?

A

Prevalence: 1 in 20,000 births if all types are
included

102
Q

What are the overall types of osteogenesis imperfecta?

A

Four major types are recognized with cranio-
facial changes, deafness, bowed limbs, and
fractures—type II is an outlier with lethal
dwarfing limb and chest changes

103
Q

What genetic defects are involed in osteogenesis imperfecta?

What mode of inheritance?

A

• Heterozygous mutations in the genes for the
alpha-1 and alpha-2 chains of collagen I
(COL1A1, COL1A2)
• Autosomal dominant inheritance patterns
• Targeted COL1 gene testing will provide the
diagnosis in over 80% of cases

104
Q

Describe type 1 osteogenesis imperfecta?

A

Type I: Near normal growth with blue-gray
sclerae, multiple fractures, and later hearing loss

105
Q

Describe type 2 osteogenesis imperfecta?

A

Type II: Extremely severe with usual death in
the perinatal period and rare survival for
months; poorly mineralized cranium and long
bones with large fontanel, hydrocephalus,
hypotonia, short and bowed limbs distorted
by multiple fractures in utero and callus
formation

106
Q

Describe type III osteogenesis imperfecta?

A

Type III: Prenatal growth deficiency, multiple
fractures at birth, limb bowing, severe kypho-
scoliosis leading to respiratory compromise;
dentinogenesis imperfecta is severe, bluish
sclerae less after infancy

107
Q

Describe type IV osteogenesis imperfecta?

A

• Type IV: Short stature with limb deformities;
femoral bowing in infancy that improves;
dental changes
• Other types have been added, including a
type VI with vertebral fractures and lack of
COL1 mutations

108
Q

Developmental abn for type 1 osteogeneis imperfecta?

A

• Development: Usually normal since hearing
loss occurs late (third decade)

109
Q

Growth abn associated with type 1 osteogenesis imperfecta?

A

Growth: Prenatal deficiency and short stature
with significant limb fractures

110
Q

Neural abn assoc with type 1 osteogenesis imperfecta?

A

Neural: Hearing impairment due to otosclerosis

111
Q

cranial abn assoc with type 1 osteogenesis imperfecta?

A

Cranial: Macrocephaly, Wormian bones, mal-
occlusion of jaw

112
Q

facial abn assoc with type 1 osteogeneis imperfecta?

A

Blue-gray sclera, dentin/pulp hypopla-
sia, translucent blue-gray teeth, caries

113
Q

How common are fractures in type 1 osteogenesis imperfecta?

A

Fractures (92% overall): 8% at birth, 23%
infancy, 45% preschool, 17% school, less
after puberty

114
Q

connective tissue abn assoc w/ type 1 osteogenesis imperfecta?

A

Connective tissue: Lower limb bowing,
kyphoscoliosis, easy bruising, inguinal and
umbilical hernias

115
Q

What health supervision and preventative care should be undertaken in pts with type 1 osteogenesis imperfecta?

A

• Neonatal skeletal radiologic survey to ascer-
tain fractures and extent of deformities
• Orthopedic care with later hearing screening
• Endocrine consultation may help with
bisphosphonate therapy

• Vitamin D and calcium supplementation if
hypophosphatasia with large fontanel, frac-
tures, and similar dental problems is excluded

116
Q

Prevalence of beckwith-wiedemann syndrome (BWS)?

A

Prevalence: 1 in 12,000 births and probably
higher, with some cases having only
macroglossia

KK Paediatric Genetics disorders, Metabolic disorders, Syndromes study (1 decks)

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