CENTRAL-NERVOUS-SYSTEM ANOMALIES IN SECKEL-SYNDROME - REPORT OF A NEWFAMILY AND REVIEW OF THE LITERATURE

Seckel syndrome (SS) is a rare, heterogeneous form of primordial dwarf ism, The clinical delineation of this disorder has been inconsistent, using even Seckel's original criteria, As a result, probably fewer tha n one-third of reported cases are truly affected with SS. Among these, there have been only six familial cases, all of whom were born to nor mal parents, and in only one case has a detailed description of the ce ntral nervous system (CNS) anomalies been given.We describe a family i n which three of eight children were affected with SS. CNS anomalies s een in our patients included agenesis of the corpus callosum, a dysgen etic cerebral cortex, a large dorsal cerebral cyst, and pachygyria, su ggesting an underlying neuronal migration disorder. The parents are fi rst cousins, representing only the second instance of consanguinity, s upporting an autosomal recessive mode of inheritance. (C) 1997 Wiley-L iss, Inc.