Dyschondrostéose (Léri-Weill Syndrome): Congenital Short Forearms, Madelung-Type Wrist Deformities, and Moderate Dwarfism

Abstract

In 1929 Léri and Weill (16) described aI case of dwarfism in a young woman with very short forearms and Madelung-like wrist deformities. They termed the group of abnormalities dyschondrostéose ; under this title a small number of isolated reports have appeared (2–4,8, 11–13, 15). Lamy and Maroteaux (14) gave an excellent review and added additional cases (including one in a child) in their discussion of chondrodystrophies. The rarity of the disorder, its interesting roentgen findings, and recent reports of chromosomal studies (3, 8) make the following case history worthy of record. Case Report G. V., a 6-year-old Cuban-born boy, was seen for evaluation of unusual wrist deformities first noted at three years of age. The parents were not seeking any advice for the patient's short stature. The father, fifty years of age, was normal in height and wrist development; the 36-year-old mother was 5 feet tall, and her wrists were normal. A 9-year-old brother was normal in height and wrist development. Physical Examination: The patient was a bright, sturdy little boy; his height of 94 cm was more than two standard deviations below the normal average of 105 cm. The short stature was due to short lower legs rather than general underdevelopment of the extremities. The forearm hypoplasia was striking (Fig. 1); his fingertip-to-fingertip span was 94 cm (normal 105 cm). The cranium-fingertip to symphysis pubis-heel ratio was 80 per cent (normal 114 per cent at this age), reflecting the extremely short forearms. A bayonet-like wrist deformity was apparent in the lateral view (Fig. 1) due to the dorsal subluxation of the distal ulna from the radiocarpal bones. Wrist motion was normal, but attempts to reposition the distal ulna were both painful and transient. The fourth knuckle bulge was absent when a fist was made, reflecting the short metacarpals demonstrated on the roentgenograms. Laboratory Studies: Calcium phosphorus and alkaline phosphatase levels were normal, as were the hemogram and VDRL test. Roentgen Findings: A skeletal survey revealed abnormalities limited to the mid and peripheral seg­ments; the skull, spine, and proximal segments (femur, humerus) were normal. Radius and ulna: Both the radius and ulna evidenced marked shortening without bowing. The distal ulna, although dorsally subluxated, showed a normal growth plate. By contrast, the distal radius was grossly abnormal with a bulbous and sloping growth plate; the deformity was most marked on the ulnar medial half (Fig. 2). The shortness of the radius created with the ulna a “V”-shaped space in which the carpal bones rested. Lateral views confirmed the dorsal subluxation of the ulna from the radiocarpal bones with a bayonet-like stepoff (Fig. 3). Hand: Radiographs of the hand showed bilateral marked shortening of the fourth metacarpals with normally shaped ossification centers. The digits were normal.