Adams-Oliver syndrome: autosomal recessive inheritance and new phenotypic-anthropometric findings.
We describe a new family with Adams-Oliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib had SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive inheritance. New phenotypic-anthropometric findings in one infant were upper limb micromelia and brachypodia.
Klinger
G
G
Department of Neonatology, Rabin Medical Center, Petah Tiqva, Israel.
Merlob
P
P
D000886:Anthropometry; D001837:Body Weights and Measures; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000473:pathology*; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016104:Oligohydramnios / Q000175:diagnosis / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D012535:Scalp / Q000002:abnormalities / Q000473:pathology*; D013577:Syndrome