Two brothers with heart defects and limb shortening: case reports and review.

Abstract

Two male Arab sibs are reported with congenital heart disease and skeletal malformations. Other published case reports sharing some features in common with these brothers are considered. However, clinical and radiological features in these boys are distinct enough to represent a new cardioskeletal syndrome.

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

“…The odonto‐chondro‐dysplasia [Goldblatt et al, ; Unger et al, ] was ruled out as a possible diagnosis by the absence of the typical biconvex vertebral bodies with coronal clefts, flared ilia, small sciatic notch, and wide metaphyses of the long bones in the family reported herein. Finally, the overall pattern of abnormalities seen in the patients described herein is distinct from other severe chondrodysplasia associated with heart malformations such as: the facio‐cardio‐melic syndrome [Stratton et al, ] by the presence of ulnae and normal extremities; the metaphyseal chondrodystrophy Sussman type [Sussman et al, ] by the absence of broad tapering fingers, and normal segmentation of the thoracolumbar; and the cardio‐skeletal syndrome [Reardon et al, ], by the fact that in the latter, bones are mildly affected, and there are flared metaphyses, flared iliac wings, coronal clefts of the vertebrae, and advanced carpal bone age.…”

Dwarfism, rhizomelic limb shortness, and abnormal face: New short stature syndrome sharing some manifestations with Robinow syndrome

“…Rhizomelic limb shortness affecting predominantly the upper limbs has been described in a number of rare and apparently distinct syndromes [Barrow and Fitzsimmons, 1984;Kozlowski et al, 1974;Patterson and Lowry, 1975;Reardon et al, 1990;Urbach et al, 1986;Viljoen et al, 19871. Our case differs from all of these on clinical grounds.…”