An unusual cardiomelic syndrome

Abstract

We report on a patient with pre- and postnatal growth retardation, bilateral symmetrical ulnar agenesis with monodactyly, atrial septal defect, two ventricular septal defects, Wolff-Parkinson-White conduction abnormality, and abnormal configuration of the pancreas. Although she had some facial features reminiscent of the Brachmann-de Lange syndrome, relatively normal head size and motor development indicate a distinct syndrome.

An unusual cardiomelic syndrome

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The case reported by Stratton et al [1988] as "an unusual cardiomelic syndrome" reminded us of a similar patient that we have followed from birth to the age of 3%2 years. We had initially considered ours to be provisionally unique but eventually settled on a diagnosis of the Brachmann-de Lange syndrome.Our patient ( Fig.

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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.…”