title: Acro-renal-ocular syndrome: expansion of the phenotype.
abstract: We report the sixth described family with acro-renal-ocular syndrome in a boy and more mildy in his mother. Severe upper limb deficiency, dysplastic kidneys, and strabismus are noted in this child in addition to developmental delay, dysplastic corpus callosum, and incomplete myelination. Developmental central nervous system (CNS) malformations have not been described in this syndrome previously and may represent an expansion of the phenotype.
authors.affiliation: Department of Pediatrics, New York University Medical Center, NY 10016, USA.
authors.forename: E
authors.initials: E
authors.lastname: Guillén-Navarro
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: E
authors.initials: E
authors.lastname: Reich
authors.forename: L
authors.initials: L
authors.lastname: Zajac
authors.forename: H
authors.initials: H
authors.lastname: Ostrer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D001132:Arm / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D013285:Strabismus / Q000235:genetics*; D013577:Syndrome