Table 1.
Overview of the phenotypic presentation in occipital horn syndrome.
| Total (Percentage) | |
|---|---|
| Craniofacial | |
| Long face | 6/13 (46%) |
| Large ears | 5/13 (38%) |
| Sagging/ full cheeks | 5/11 (45%) |
| Hair abnormalities | 14/19 (74%) |
| Pili torti on trichoscopy | 7/10 (70%) |
| Connective tissue | |
| Cutis laxa | 25/27 (93%) |
| Inguinal hernia | 15/24 (63%) |
| Umbilical hernia | 1/22 (5%) |
| Osteoarticular | |
| Occipital horns | 25/26 (96%) |
| Radial/tibial exostoses | 6/16 (38%) |
| Hammer-shaped clavicula | 9/19 (47%) |
| Bowing of long bones | 4/17 (23%) |
| Mid-diaphyseal broadening | 2/17 (11%) |
| Rounding of the iliac wings | 3/17 (18%) |
| Coxa valga | 6/16 (38%) |
| Genu valgum | 6/17 (35%) |
| Metaphyseal spurring | 2/16 (13%) |
| Scoliosis | 8/21 (38%) |
| Pectus deformity | 13/23 (57%) |
| Dislocations | 12/20 (60%) |
| Contractures of large joints | 3/19 (16%) |
| Joint hyperlaxity | 16/26 (62%) |
| Fractures | 2/21 (10%) |
| Neurological | |
| Intellectual disability | 17/33 (52%) |
| Seizures | 5/25 (20%) |
| Muscle hypotonia | 10/25 (40%) |
| Stroke | 1/23 (4%) |
| Cardiovascular | |
| Aneurysm formation | 5/7 (71%) |
| Dilatation of the large veins | 2/6 (33%) |
| Intracranial tortuosity | 7/11 (64%) |
| Extracranial tortuosity | 3/4 (75%) |
| Dysautonomia | 13/15 (87%) |
| Urogenital | |
| Bladder diverticula | 25/30 (83%) |
| Renal abnormalities | 6/20 (30%) |
| Urinary tract infections | 17/23 (74%) |
| Vesicourethral reflux | 7/23 (30%) |
| Laboratory findings | |
| Serum copper | 20/28 (71%) |
| Serum ceruloplasmin | 20/27 (74%) |