Number of patients | 22 | 12 | 34 |
Constitution |
Normal length at birth | 11 (50) | 9 (75) | 20 (58) |
Postnatal growth failure | 22 (100) | 12 (100) | 34 (100) |
Craniofacial features |
Brachycephalic skull | 20 (90.9) | 10 (83.3) | 30 (88.2) |
Hypoplasia of frontal and parietal tubers | 20 (90.9) | 11 (92) | 31 (91.2) |
Narrow forehead | 20 (90.9) | 11 (91.7) | 31 (91.2) |
Long senile face | 21 (95.4) | 12 (100) | 33 (97.1) |
Small features of face | 19 (86.4) | 10 (83.3) | 29 (85.3) |
Facial asymmetry | 19 (86.4) | 5 (41.7) | 24 (70.6) |
Straight nose with prominent glabella | 19 (86.4) | 12 (100) | 31 (91.2) |
Thick/bushy eyebrows | 15 (68.2) | 9 (75) | 24 (70.6) |
Small orbit | 22 (100) | 11 (91.7) | 33 (97.1) |
Bilateral exophthalmos | 20 (90.9) | 11 (91.7) | 31 (91.2) |
Hypertelorism | 3 (13.6) | 2 (16.7) | 5 (14.7) |
Epicanthus | 16 (72.7) | 6 (50) | 22 (64.7) |
Hypoplastic cheekbone | 21 (95.4) | 12 (100) | 33 (97.1) |
Long philtrum | 19 (86.4) | 9 (75.0) | 28 (82.4) |
Thin lips | 20 (90.9) | 8 (66.7) | 28 (82.4) |
Body and extremity features |
Short neck | 19 (86.4) | 11 (91.7) | 30 (88.2) |
Loose and senile skin | 22 (100) | 12 (100) | 34 (100) |
Depressed turgor of tissue | 22 (100) | 12 (100) | 34 (100) |
Fine hair | 17 (77.3) | 8 (66.7) | 25 (73.5) |
Hypermobility of small joints | 20 (90.9) | 10 (83.3) | 30 (88.2) |
Muscular hypotonia | 18 (81.8) | 10 (83.3) | 28 (82.4) |
Micromelia | 22 (100) | 12 (100) | 34 (100) |
Brachydactyly | 22 (100) | 12 (100) | 34 (100) |
Syndactyly | 1 (4.6) | 1 (8.3) | 2 (5.9) |
Simian crease | 3 (13.6) | 2 (16.7) | 5 (14.7) |
Wide feet with high arch | 19 (86.4) | 11 (91.7) | 30 (88.2) |
Sandal chink | 18 (81.8) | 8 (66.7) | 26 (76.5) |
Wide big toe | 18 (81.8) | 8 (66.7) | 26 (76.5) |
Ophthalmological findings |
Bilateral optic nerve atrophy | 22 (100) | 12 (100) | 34 (100) |
Strabismus | 6 (27.2) | 3 (25.0) | 9 (26.5) |
Pigmented nevus | 1 (4.6) | 1 (8.3) | 2 (5.9) |
Myopia | 9 (40.9) | 3 (25.0) | 12 (35.3) |
Hypermetropia | 1 (4.6) | 2 (16.7) | 3 (8.8) |
Radiological findings |
Delay of chronological age | 7 (31.8) | 7 (58.3) | 14 (41.2) |
Neurological findings |
Normal intellectual function | 21 (95.5) | 12 (100) | 33 (97.1) |
Pathology of other systems |
High voice with harsh timber | 21 (95.5) | 11 (91.7) | 32 (94.1) |
Hypoplasia of uterus | 4 (18.2) | 0 | 4 (11.8) |
Insulin dependent diabetes | 2 (9.1) | 0 | 2 (5.9) |
Hypoplasia of thyroid gland | 2 (9.1) | 1 (8.3) | 3 (8.8) |