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A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity.
Eur J Pediatr. 1992 Apr; 151(4):288-90.EJ

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.

Authors+Show Affiliations

Cataltepe S
Department of Paediatrics, Hacettepe Medical School, Ankara, Turkey.
Tuncbilek E
No affiliation info available

MeSH

Abnormalities, MultipleAgenesis of Corpus CallosumAnencephalyChild, PreschoolConsanguinityDiaphragmatic EventrationFaceFingersGenes, RecessiveHearing Loss, SensorineuralHumansMaleSyndromeToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1499582

Citation

Cataltepe, S, and E Tuncbilek. "A Family With One Child With Acrocallosal Syndrome, One Child With Anencephaly-polydactyly, and Parental Consanguinity." European Journal of Pediatrics, vol. 151, no. 4, 1992, pp. 288-90.
Cataltepe S, Tuncbilek E. A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. Eur J Pediatr. 1992;151(4):288-90.
Cataltepe, S., & Tuncbilek, E. (1992). A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. European Journal of Pediatrics, 151(4), 288-90.
Cataltepe S, Tuncbilek E. A Family With One Child With Acrocallosal Syndrome, One Child With Anencephaly-polydactyly, and Parental Consanguinity. Eur J Pediatr. 1992;151(4):288-90. PubMed PMID: 1499582.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A family with one child with acrocallosal syndrome, one child with anencephaly-polydactyly, and parental consanguinity. AU - Cataltepe,S, AU - Tuncbilek,E, PY - 1992/4/1/pubmed PY - 1992/4/1/medline PY - 1992/4/1/entrez SP - 288 EP - 90 JF - European journal of pediatrics JO - Eur J Pediatr VL - 151 IS - 4 N2 - 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. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/1499582/A_family_with_one_child_with_acrocallosal_syndrome_one_child_with_anencephaly_polydactyly_and_parental_consanguinity_ DB - PRIME DP - Unbound Medicine ER -