Table 4 Dysmorphic features identified in the clinical genetic evaluation (N = 32)
Dysmorphic features | N | % | Estimated frequency from previous reports[50] |
|---|---|---|---|
Large, fleshy hands | 17 | 53 | >50% |
Bulbous nose | 15 | 47 | >50% |
Long eyelashes | 14 | 44 | >50% |
Ear anomalies | 13 | 41 | >50% |
Hypoplastic/dysplastic nails | 11 | 34 | >50% |
Full lips | 10 | 31 | Â |
Epicanthal folds | 10 | 31 | >25% |
Macrocephalya | 10 | 31 | Â |
Dolichocephaly | 8 | 25 | >50% |
High arched palate | 8 | 25 | >25% |
Hyperextensibility | 8 | 25 | Â |
Full cheeks | 8 | 25 | >50% |
Periorbital fullness | 8 | 25 | >50% |
Pointed chin | 7 | 22 | >50% |
Abnormal spine curvature | 7 | 22 | Â |
Wide nasal bridge | 5 | 16 | >50% |
Long philtrum | 5 | 16 | >25% |
Sparse hair/abnormal whorl | 5 | 16 | Â |
Malocclusion/widely spaced teeth | 6 | 19 | >25% |
Micrognathia | 4 | 13 | Â |
Hypertelorism | 4 | 13 | Â |
Short statureb | 4 | 13 | Â |
Sacral dimple | 4 | 13 | >50% |
Syndactyly of toes 2 and 3 | 3 | 9 | Â |
Malar hypoplasia | 3 | 9 | Â |
Fifth finger clinodactyly | 3 | 9 | <14% |
Microcephalyc | 2 | 6 | Â |
Deep set eyes | 2 | 6 | >50% |
Accelerated growthd | 1 | 3 | Â |
Flat midface | 1 | 3 | >50% |
Ptosis | 1 | 3 | >25% |
Low set ears | 1 | 3 | Â |