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Robin sequence with facial and digital anomalies in two half-brothers by the same mother.

作者信息

Chitayat D, Meunier C M, Hodgkinson K A, Azouz M E

机构信息

Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.

出版信息

Am J Med Genet. 1991 Aug 1;40(2):167-72. doi: 10.1002/ajmg.1320400209.

DOI:10.1002/ajmg.1320400209
PMID:1897570
Abstract

Two half-brothers by the same mother presented with the Robin sequence and facial and digital anomalies. The mother has a normal face and mild hyperopia without abnormality on radiographs of the hands, feet, and pelvis. The older son is 4 years and the younger is 6 months old. Both have normal psychomotor development. To the best of our knowledge this familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. The occurrence of the syndrome in 2 half-brothers by the same unaffected mother suggests X-linked recessive inheritance.

摘要

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