RADIOLOGICAL FEATURES IN BRACHMANN-DELANGE SYNDROME

Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consi sting variably of pre- and postnatal growth deficiency, microbrachycep haly, characteristic face, hypertrichosis, visceral anomalies, and lim b defects consisting primarily of variable limb reduction defects, mic romelia, and elbow abnormalities. The course is usually marked by init ial hypertonicity, low-pitched weak cry, feeding problems, and behavio ral problems with marked mental deficiency. In classical cases there i s rarely any difficulty in making the diagnosis, but for mildly affect ed cases, it may be difficult to feel secure about the diagnosis. In a n effort to increase the precision of diagnosis for mildly affected ca ses, we reviewed roentgenograms in 21 cases of Brachmann-de Lange synd rome, as well as previously published descriptions of the radiological manifestations. Unusual radiologic manifestations were related primar ily to the limb anomalies, and these were often asymmetric. These mani festations included digital abnormalities, which ranged from acheiria to oligodactyly, hypoplasia of the thumb and first metacarpal, clinoda ctyly of the fifth finger, or ectrodactyly. Long bone abnormalities in cluded ulnar a/hypoplasia, dysplasia of the radial head, or fusion of the elbow. When there was a single forearm bone, there was often fusio n at the elbow and oligodactyly, which made it difficult to determine whether the radius or ulna was absent. Other radiologic manifestations included 13 ribs with precocious sternal fusion, and micrognathia. We suggest that these radiologic manifestations could increase diagnosti c precision in mildly affected cases. (C) 1993 Wiley-Liss, Inc.