ACRO-RENAL-OCULAR SYNDROME - EXPANSION OF THE PHENOTYPE

We report the sixth described family with acro-renal-ocular syndrome i n a boy and more mildy in his mother. Severe upper limb deficiency, dy splastic kidneys, and strabismus are noted in this child in addition t o developmental delay, dysplastic corpus callosum, and incomplete myel ination. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an e xpansion of the phenotype. Clin Dysmorphol 7: 243-248 (C) 1998 Lippinc ott Williams & Wilkins.