Severe mental retardation, short stature, facial anomalies, joint laxity, and dislocations in two sisters: previously undescribed MCA/MR syndrome.
We describe two sisters with short stature, obesity, "bulbous" nasal tip, microretrognathism, brachydactyly, joint hyperlaxity and dislocation, and mental retardation. Skeletal surveys disclosed widened mandibular angles, thin temporal processes, hypoplastic clavicles, short distal ends of ulnae, short fourth metacarpals, and dislocation of hips, elbows, and thumbs. The parents are first cousins. To the best of our knowledge, this combination of multiple congenital anomalies and mental retardation has not been reported before.
Mégarbané
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Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. megarban@dm.net.lb
Cormier-Daire
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D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D006130:Growth Disorders; D006801:Humans; D008607:Intellectual Disability; D004204:Joint Dislocations; D007593:Joint Instability; D013577:Syndrome