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Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.

作者信息

Richieri-Costa A, Brunoni D, Laredo Filho J, Kasinski S

机构信息

Laboratório de Genética Humana, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Bauru, Brazil.

出版信息

Am J Med Genet. 1987 Dec;28(4):971-80. doi: 10.1002/ajmg.1320280424.

DOI:10.1002/ajmg.1320280424
PMID:3688036
Abstract

We report on a consanguineous Brazilian couple whose 2 children had tibial aplasia-ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia-ectrodactyly to the Gollop-Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed.

摘要

相似文献

1
Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.
Am J Med Genet. 1987 Dec;28(4):971-80. doi: 10.1002/ajmg.1320280424.
2
Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?缺指（趾）畸形与胫骨缺如（发育不全）：存在显性和隐性类型吗？
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[Gollop-Wolfgang syndrome].[戈洛普 - 沃尔夫冈综合征]
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Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type.胫骨发育不全伴股骨分叉和缺指（趾）畸形：常染色体隐性类型的证据。
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Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.胫骨发育不全合并缺指/趾畸形/戈洛普-沃尔夫冈复合体，伴有先天性心脏畸形和其他骨骼异常。
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[Gollop-Wolfgang complex and cloacal exstrophy, a strange association].[戈洛普-沃尔夫冈复合体与泄殖腔外翻，一种奇特的关联]
Arch Argent Pediatr. 2010 Feb;108(1):e1-4. doi: 10.1590/S0325-00752010000100014.
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Familial occurrence of bifid femur and monodactylous ectrodactyly.双叉股骨与单指（趾）缺指（趾）畸形的家族性发生情况。
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Limb salvage treatment for Gollop-Wolfgang complex (femoral bifurcation, complete tibial hemimelia, and hand ectrodactyly).戈洛普-沃尔夫冈复合体（股动脉分叉、胫骨半侧完全性缺如和手部裂手畸形）的保肢治疗
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Femoral bifurcation and bilateral tibial hemimelia: case report.股动脉分叉及双侧胫骨半肢畸形：病例报告
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Am J Hum Genet. 2014 Dec 4;95(6):649-59. doi: 10.1016/j.ajhg.2014.10.012. Epub 2014 Nov 13.
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A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.一种与胫骨半侧发育不全相关的裂手/裂足畸形（SHFLD综合征）的新基因座定位于染色体区域17p13.1 - 17p13.3。
Hum Genet. 2008 Jul;123(6):625-31. doi: 10.1007/s00439-008-0515-7. Epub 2008 May 21.
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A pair of sibs with tibial hemimelia born to phenotypically normal parents.一对表型正常的父母生育了患有胫骨半肢畸形的一对同胞。
J Hum Genet. 2003;48(4):173-6. doi: 10.1007/s10038-003-0003-9. Epub 2003 Mar 11.