一个贝都因家庭中患有胼胝体发育不全的Greig头多指综合征。

Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family.

作者信息

Marafie M J, Temtamy S A, Rajaram U, al-Awadi S A, el-Badramany M H, Farag T I

机构信息

Kuwait Medical Genetics Centre, Psychological Medicine Hospital, Kuwait.

出版信息

Am J Med Genet. 1996 Dec 18;66(3):261-4. doi: 10.1002/(SICI)1096-8628(19961218)66:3<261::AID-AJMG4>3.0.CO;2-S.

DOI:10.1002/(SICI)1096-8628(19961218)66:3<261::AID-AJMG4>3.0.CO;2-S

PMID:8985483

Abstract

We report on the first known Bedouin family with Greig cephalopolysyndactyly syndrome (MIM 175700). The index patient and his father shared pre- and postaxial polysyndactyly, mild mental retardation, and corpus callosum dysgenesis. Their phenotypic findings were compared with reported cases of both Greig cephalopolysyndactyly (GCPS) and acrocallosal syndromes. This family represents the second report of the rare occurrence of dysgenesis of the corpus callosum in GCPS.

摘要

我们报告了首例已知的患有Greig头多指（趾）综合征（MIM 175700）的贝都因家族。先证者及其父亲均有轴前和轴后多指（趾）畸形、轻度智力障碍以及胼胝体发育不全。他们的表型特征与已报道的Greig头多指（趾）综合征（GCPS）和肢胼胝体综合征病例进行了比较。这个家族是关于GCPS中胼胝体发育不全罕见病例的第二篇报道。