From: Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Clinical features | Patient 1 | Patient 2 | Patient 3 | Other 10 Frank-ter Haar cases with confirmed SH3PXD2Bmutation [7] |
---|---|---|---|---|
General | ||||
Gender | M | F | M | M:F 8:2 |
Consanguinity | + | + | + | 9/10 |
Craniofacial | ||||
Prominent forehead | + | + | + | 10/10 |
Hypertelorism | + | + | + | 9/9 |
Brachycephaly | + | + | + | 10/10 |
Wide anterior fontanelle | + | - | + | 10/10 |
Prominent ears | + | + | + | 5/7 |
Flat nasal bridge | + | + | + | |
Micrognathia | + | - | - | 9/10 |
Class III malocclusion | - | + | + | † |
Anterior open bite | - | - | + | † |
Open metopic suture | + | - | + | † |
Sagittal synostosis | - | + | + | † |
Raised intracranial pressure | - | + | + | † |
Hypoplasia of teeth | + | + | + | |
Broad mouth | + | + | + | 10/10 |
Broad alveolar ridges | NR | NR | NR | 6/8 |
Anteverted nostrils | - | - | - | 6/9 |
Full cheeks | + | + | + | 10/10 |
Skeletal | ||||
Talipes | + | - | + | 5/8 |
Size discrepancy in feet | - | + | - | † |
Exostoses | + | + | - | † |
Subcutaneous nodules | + | + | - | † |
Contractures/flexion deformity fingers/clawing | + | - | - | 3/10 |
Short hands/digits, brachydactyly | + | + | + | 10/10 |
Kyphosis | - | - | + | 5/8 |
Bowing of long bones | NT | NT | NT | 7/10 |
Prominent coccyx | + | - | - | 8/10 |
Cardiac | ||||
Aortic regurgitation/prolapse | AVR | AVR | - | 1/6 |
Tricuspid regurgitation | + | - | - | |
Mitral valve prolapse/regurgitation | MVP/MVR | MVP/MVR | MVR | 3/6 |
Ventricular septal defect | - | - | - | 5/7 |
Double right outlet | - | - | - | 2/3 |
Ocular | ||||
Megalocornea | - | - | - | 9/9 |
Congenital glaucoma/raised IOP | - | - | - | |
Other | ||||
Recurrent UTIs/duplex system | NT | + | NT | |
Bilateral lymphoedema legs | + | - | - | † |