Table 1 Comparison of clinical features in patients 1–3 with previous cases with prove SH3PXD2B mutations

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

+

-

-

†