PATIENT WITH CRANIOSYNOSTOSIS AND MARFANOID PHENOTYPE (SHPRINTZEN-GOLDBERG SYNDROME) AND CLOVERLEAF SKULL

Marfanoid phenotype with craniosynostosis (Shprintzen-Goldberg syndrom e) is a rare disorder previously described in only 5 patients. We repo rt on the sixth known patient with this condition. The findings which distinguish our patient from others reported previously are that she w as ascertained prenatally as having a cloverleaf skull; this is the fi rst female patient described with this condition. Postnatally, she pre sented with arachnodactyly, camptodactyly, and clover-leaf skull, Imag ing studies of the brain documented microcephaly with malformed brain, hydrocephaly, and hypoplasia of the corpus callosum. She also had cho anal atresia and stenosis, a clinical finding previously reported only once, in this disorder, (C) 1995 Wiley-Liss, Inc.