Syndromes Flashcards
Buzzwords for Noonan syndrome
Genetic mutation
Face: Down slanting palpebral fissures, low set ears, externally rotated ears, webbed neck (think male Turner)
Eyes: PTOSIS
Short stature
Cardiac: PS, HOCM, ASD, VSD, CoA
Chest: Pectus excavatum/carinatum
Abdomen: hepatosplenomegaly (remember JMML), cryptorchidism
Skin: cafe au lait patches (like NF1)
Blood/lymph: clotting dysfunction, lymphoedema, risk of JMML
Intellectual impairment
PTPN11 gene
William’s syndrome
Mild microcephaly
‘Elfin-like facies’ - small chin, flattened nasal bridge, long upper lip
Cocktail party manner
Supravalvular aortic stenosis
Pulmonary stenosis
Hypercalcaemia - low Ca and vit D diet
Cardiac conditions associated with Rubenstein-Taybi
PDA
ASD
VSD
broad thumbs, large toes, hypoplastic maxilla, short stature
Cardiac defects in Holt-Oram
ASD
VSD
conduction defects
Cardiac defects in VACTERL
VSD, ASD
less common: TGA, HLH, TA, TGA, TOF, PDA
Common cardiac defect in Cri du Chat?
ASD, VSD, PDA + TOF
Dysmorphic features in Cri du Chat?
Microcephaly
Micrognathia
Moon face with wide-spaced eyes (hypertelorism)
Wide and flat nasal bridge
Hypotonia
Down slanting palpabral fissures
Clinical features of Cri du Chat?
High pitched cry (anatomical changes to larynx)
Feeding difficulties
Intellectual disabilities
FTT
Clinical features of Treacher Collins Syndrome
Mandibulofacial dysostosis
- Zygomatic and mandibular bone hypoplasia
- Eyelid colobomas
- Sparse eye lashes
- Microretrognathia
- Choanal atresia
- Microtia
- Conductive hearing loss
- Clef lip + palate
Most common problem (in neonatal period) in Treacher Collins?
Airway difficulties
Intellectual ability in Treacher Collins?
Normal
Follow up in Treacher Collins?
Vision assessment (coloboma)
Hearing assessment (microtia, conductive hearing loss)
Feeding difficulties (clef lip/palate)
Speech therapy (clef lip/palate)
Psychosocial therapy!!
Features of osteogenesis imperfecta
Blue sclera, bone fragility (osteopaenia, fractures), hearing loss, XR shows wormian
4 types: 1 most common, 4 and 1 similar, 2 and 3 the worst
1 is autosomal recessive
Spontaneous improvement with puberty
