PMC6159314_01
PMC6159314_02
Patients appearance. This photograph presents facial dysmorphism including; a triangular face, pointed chin, sparse hair, nail hypoplasia, brachydactyly, crowded teeth and frontal bossing
ABR-7-128-g001.jpg
PMC6159314_02_ABR-7-128-g001.jpg
F1
She did not have organomegaly and genitalia were feminine and normal [Figure 1].
PMC6159314_03
PMC6159314_04
PMC6159314_05
Minimal cupping at the phalangeal basis, short phalanges, short and broad metacarpal and metatarsal bones, cone-shaped epiphysis and metaphyseal cupping at middle and distal phalanges. Narrow and vertical appearance of the iliac bone with shallow acetabuli and short femoral necks. Knee metaphyseal flaring with mild epiphyseal dysplasia and slender diaphysis of long bones. Short fibula and tall vertebrae are seen
ABR-7-128-g002.jpg
PMC6159314_05_ABR-7-128-g002.jpg
F2