Table 1

Comparison of clinical features in patients 1–3 with previous cases with prove SH3PXD2B mutations
Clinical features Patient 1 Patient 2 Patient 3 Other 10 Frank-ter Haar cases with confirmed SH3PXD2B mutation [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 + - -

Comparison is made with features in other previously-reported confirmed cases of Frank-ter Haar syndrome with known SH3PXD2B mutations [7].

† − Features not described in any previous reports or Frank-ter Haar syndrome, regardless of whether or not genetic analysis was performed to confirm the diagnosis [1-3,5,7,12-15].

NR - not recorded.

NT - not tested.

AVR - aortic valve regurgitation.

MVR - mitral valve regurgitation.

MVP - mitral valve prolapse.

Bendon et al.

Bendon et al. BMC Medical Genetics 2012 13:104   doi:10.1186/1471-2350-13-104

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