MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE-II - REPORT OF3 CASES AND REVIEW

We report on three further patients with microcephalic osteodysplastic dwarfism type II. All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation. They are disproportionately short statured due to short limbs. Charact eristic skeletal abnormalities are small iliac wings with flat acetabu lar angles, coxa vara, V-shaped distal femoral metaphyses, and triangu lar distal femoral epiphyses, as well as pseudoepiphyses of metacarpal s, short first metacarpals, and brachymesophalangy V. At age 3 years, bilateral epiphyseolysis of the femoral heads occurred in case 1, Incl uding our patients, 17 cases have been published so far. We review the clinical picture and the cause. Am. J, Med, Genet, 80:25-31, 1998, (C ) 1998 Wiley-Liss, Inc.