MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TAYBI-LINDER TYPE -REPORT OF 4 CASES AND REVIEW OF THE LITERATURE

Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al, in 1982, This group of syn dromes was characterized by intrauterine growth retardation, microceph aly, and typical facial appearance with prominent nose and micrognathi a. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differ ences. In 1967, Taybi and Linder described another syndrome with micro cephalic congenital dwarfism, There is a consensus that MODP type I an d III and Taybi-Linder cephaloskeletal dysplasia represent the same di sorder. We report on four patients with MODP type Taybi-Linder syndrom es, two of whom were born to unrelated but consanguineous parents, whi le the other two were sibs, Second-trimester prenatal detection by ult rasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inherita nce. Am, J, Med, Genet, 80:16-24, 1998, (C) 1998 Wiley-Liss, Inc.