Prenatal features | increased nuchal translucency (NT), cystic hygroma, hydrops fetalis, subcutaneous edema, cardiac or renal anomalies, short femur and fetal growth restriction. |
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Postnatal features | |
Physical features | short, webbed neck |
low line of hairs at the back of the neck | |
puffy hands, cruses and feet at birth | |
lymphedema of the whole body at birth | |
Failure to thrive during first year of life | |
multiple pigmented naevi | |
Eyes | epicanthic fold, hiperteloryzm, ptosis |
Ears | big, low-set ears rotated to the back, deformity of external ear |
Mouth | high arched palate, abnormal dental development, small mandible |
Chest | widely spaced nipples, inverted nipples, broad chest (shield chest), pectus excavatum, |
Nails | narrow, hyperconvex uplifted nails, nail hypoplasia/dystrophy |