Syndromes- Examination findings

Question 1

Neurofibromatosis-1

Answer 1

Short stature
Scoliosis
Macrocephaly
Asymmetry/hemihypertrophy
HTN (primary, RAS, CoA, pheochromocytoma)
6+ cafe au lait spots (present by age 1 yr )
Inguinal/axiallary freckling (present by age 10 yrs)
2+ neurofibromas (present by puberty) or 1+ plexiform neurofibroma (present by 1 year)

Tibial bowing
Genu varum/valgum
Pectus excavatum
Sphenoid dysplasia (progressive exopthalmos and facial dysfigurement)

Behavioral issues/learning difficulties

In child >2 years - assess gait
In child <2 years- neurodevelopmental assessment

Say would examine eyes:
- check visual acuity and EOM
Optic pathway glioma (MRI)- loss of visual acuity, strabismus, proptosis
Lisch nodules (need slit lamp)

Associations: renal artery stenosis, pheochromocytoma, pulm valve stenosis, coarctation of aorta

Question 2

Tuberus Sclerosis

Answer 2

Angiofibroma
Ungual fibroma
Shaegreen patch
Hypomelanocytic patch
Confetti skin lesions
Angiomyolipoma (AML)
Cortical tubers + subepyndymal nodules + subependymal giant cell astroxytomas

Question 3

Turners Syndrome

Answer 3

Webbed neck
Low hairline
Cubitus valgus
Nail dysplasia
Narrow/high arch palate
Short 4th metacarpal/metatarsal
Short stature
Shield chest with wide spaced nipples
Lymphoedema of hands and feet in neonates
Madelung deformity of the forearm and the wrist
Delayed puberty/primary ammenorrhoea due to premature ovarian failure/streak gonads
Bicuspid aortic valve, CoA
Risk aortic dissection
HTN
Renal anomalies eg horseshoe kidneys
Normal IQ but learning disabilities
Risk hearing loss

Question 4

Noonans syndrome

Answer 4

Sometimes AD- look at parents
Ptosis
Low set post rotate ears
Downslanding palpebral fissues
Web neck
Short stature
GDD/II
Ix: rasopathy gene panel >WES

Question 5

VACTERL

Question 6

CHARGE

Answer 6

Coloboma
CHD
Atresia chonae
Renal anomalies
Retarted growth
Genitourinary
Ear malformations/hearing loss

Question 7

22q11

Answer 7

Short stature

Ix: microarray
Echo
Calcium (low), PTH
II
Renal USS
Immune deficiency - Fbe/Ig subsets
Audilogy

Question 8

Marfans

Question 9

Williams

Answer 9

Prominant forehead
Long philtrim
Upturned nose
Broad nasal bridge
Wide mouth
Dental changes
FTT/SS
Heart: aortic and pulmonary stenosis (murmur in LUSE)

Ix: microarray
Calcium
Renal USS
Echo

Question 10

Goldenhar

Question 11

Treacher Collins

Question 12

Mobius

Question 13

Duanne

Question 14

Trisomy 21

Question 15

Stickler

Answer 15

Ix: eye review, spine XR

Question 16

Sturge Webber

Question 17

Russell Silver

Answer 17

Relative macrocephaly (small but presevred HC)
Short stature
IUGR
Asymetry
Clinodactyly
Triangle chin
Cafe au lait spots
Often difficulty feeding with PEG
Ix: microarray and methylation studies 11p15

Question 18

Sotos

Answer 18

• Increased length, weight and HC at birth
• Proportionate tall stature
• Rapid growth in childhood
• Long tall head, macrocephaly, prominent forehead, down-slanting palpebral fissures, mild hypertelorism, high-arched palate, prominent ears, jaw and small pointed chin, large hands and feet, and acromegalic appearance, reduced IQ

Ix: normal GH and IGF-I secretion, thyroid, adrenal and gonadal function.
If tall stature exam, always say bone age (advanced in childhood, early puberty –> normal adult height)

Diagnosis: genetic testing (overgrowth gene panel or WES )

Question 19

Prader Willi

Answer 19

Short stature
Overweight/central adiposity
Hyperphagia
Hypotonia + feeding difficulties in infancy
GDD

Ix: microarray or methylation studies
TFTs (hypothyroidism)

Question 20

Beckwith Weiderman

Answer 20

Ix: methylation studies 11p15

Question 21

Achondroplasia

Question 22

Cornelia de lange

Answer 22

Microcephaly
High arched/thick fused eyebrows and long, thick eyelashes
Upturned nose
Long, smooth philtrum, smooth upper lip, downturned corners of mouth
High arched palate, may be cleft palate
Growth failure
Developmental delay, intellectual disability
Limb abnormalities
Feeding difficulties
Gastroesophageal reflux
Hearing loss
Dental problems
CHD- PPS, VSD, ASD etc

Question 23

FASD

Question 24

Radial ray defects

Answer 24

Fanconi anemia
VACTERL
TAR
Diamond blackfan anemia

Question 25

Hearing or ear abdnomrmalities

Answer 25

CHARGE
Goldenhar
Waardenburg (+ heterochromia)
Alport (SN hearing loss)
NF2 (hearing)

Question 26

Cleft palate associated with

Answer 26

22q11
Stickler
other midline defects

Question 27

Cafe au lait spots

Answer 27

NF 1
Fanconi anemia
McCune albright
Russel silver syndrome

Question 28

Macrocephaly

Answer 28

PTEN
Sotos
NF1
MPS
Skeletal dysplasias

Question 29

Microcephaly

Answer 29

Angelman
Cornelia de lange
Cri du chat
Fanconi

Question 30

Evdence congenital heart dsease

Answer 30

AS: williams
PS: nona, williams, alagille
AVSD: t21
Conotruncal: 22q11
Aortic regurg: marfan, EDS

Question 32

Sturge Webber syndrome

Answer 32

Port wine stain
Ischemic stroke - hemiplegic
Glaucoma, vision loss
Developmental delay
Seizures

MRI- hyperintensity