Fibular aplasia with ectrodactyly--broadening the clinical spectrum.
作者信息
Gieruszczak-Bialek D, Oldak M, Skorka A, Waligora J, Korniszewski L
机构信息
Department of Diabetology, Neonatology and Birth Defects, Warsaw Medical University, Dzialdowska 1, PL-01-184, Warsaw, Poland.
出版信息
Eur J Med Genet. 2006 Jan-Feb;49(1):83-6. doi: 10.1016/j.ejmg.2005.04.019. Epub 2005 Jun 20.
PMID:16473314
Abstract
Fibular aplasia-ectrodactyly is a rare disorder of the central axis, characterized by shortening of the affected limbs and formation of split hand and/or foot. Here we report on a severely affected case of fibular aplasia with ectrodactyly, in which the upper limb malformations are more pronounced than usually described in sporadic cases.
摘要
相似文献
1
Fibular aplasia with ectrodactyly--broadening the clinical spectrum.
Eur J Med Genet. 2006 Jan-Feb;49(1):83-6. doi: 10.1016/j.ejmg.2005.04.019. Epub 2005 Jun 20.
2
[A case report of a patient with FATCO syndrome: fibular aplasia, tibial campomelia and oligosyndactyly].
Arch Argent Pediatr. 2016 Jun 1;114(3):e167-70. doi: 10.5546/aap.2016.e167.
3
Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis).
Am J Med Genet. 1985 Jul;21(3):439-44. doi: 10.1002/ajmg.1320210305.
4
Ectrodactyly fibular aplasia.
Indian Pediatr. 1993 Sep;30(9):1123-5.
5
Hereditary ulnar and fibular dimelia with peculiar facies. A case report.
J Bone Joint Surg Am. 1970 Mar;52(2):367-70.
6
Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome.
Am J Med Genet. 1988 Apr;29(4):901-8. doi: 10.1002/ajmg.1320290422.
7
A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report.
Genet Couns. 2010;21(3):285-8.
8
Three new patients with FATCO: fibular agenesis with ectrodactyly.
Am J Med Genet A. 2012 Jul;158A(7):1542-50. doi: 10.1002/ajmg.a.35369. Epub 2012 May 24.
9
Familial occurrence of bifid femur and monodactylous ectrodactyly.
Am J Med Genet. 1980;7(3):319-22. doi: 10.1002/ajmg.1320070313.
10
[Hereditary transmission of aplasia of the fibula, and of ectrodactyly. Study of a family].
Quad Clin Ostet Ginecol. 1966 Dec;21(12):1295-308.
Zotero 插件