Eur J Pediatr. 1992 Apr;151(4):288-90.

A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.

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Department of Paediatrics, Hacettepe Medical School, Ankara, Turkey.

Abstract

A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome is suggested.

PMID:: 1499582; [PubMed - indexed for MEDLINE]

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The acrocallosal syndrome in a Turkish boy. [J Med Genet. 1990]
The acrocallosal syndrome in a Turkish boy.
Yüksel M, Caliskan M, Oğur G, Ozmen M, Dolunay G, Apak S. J Med Genet. 1990 Jan; 27(1):48-9.
Sibs with anencephaly, anophthalmia, clefts, omphalocele, and polydactyly: hydrolethalus or acrocallosal syndrome? [Am J Med Genet. 2000]
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Christensen B, Blaas HG, Isaksen CV, Roald B, Orstavik KH. Am J Med Genet. 2000 Mar 20; 91(3):231-4.
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Review Hypogenitalism in the acrocallosal syndrome. [Am J Med Genet. 1989]
Review Hypogenitalism in the acrocallosal syndrome.
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Review Donnai-Barrow syndrome: four additional patients. [Am J Med Genet A. 2003]
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