A NEW AUTOSOMAL RECESSIVE SYNDROME OF CHARACTERISTIC FACIES, JOINT CONTRACTURES, SKELETAL ABNORMALITIES, AND NORMAL DEVELOPMENT - 2ND REPORT WITH FURTHER CLINICAL DELINEATION

We describe a girl of Pakistani origin, born to consanguineous parents , with a multiple congenital anomaly (MCA) syndrome. This is the secon d report confirming an apparently new autosomal recessive syndrome rep orted earlier by van den Ende et al in 1992. The hallmarks of this MCA syndrome include characteristic facies with blepharophimosis, narrow, beaked nose, hypoplastic maxilla with or without cleft palate and eve rted lower lip, arachnodactyly, self-limiting congenital joint contrac tures, peculiar skeletal abnormalities, and normal growth and developm ent. Further clinical and radiological delineation of the syndrome in this report suggests that the term ''Marden-Walker-like syndrome witho ut psychomotor retardation'', used in the first report to describe thi s condition, does not accurately reflect its clinical picture. The ove rall prognosis in this syndrome seems good.