Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

A. Raas-Rothschild; A. Nir; Z. Ergaz; J. Bar Ziv; A. J.J.T. Rein

doi:10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

A. Raas-Rothschild^*, A. Nir, Z. Ergaz, J. Bar Ziv, A. J.J.T. Rein

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

Abstract

We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia- ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

Original language	English
Pages (from-to)	361-364
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	84
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O
State	Published - 4 Jun 1999
Externally published	Yes

Keywords

Autosomal recessive
Bifid femur
Gollop-Wolfgang complex
Tetralogy of Fallot
Tibial agenesis

Access to Document

10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O

Cite this

@article{be9c655c14064a63827509962f46e27e,

title = "Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities",

abstract = "We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia- ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.",

keywords = "Autosomal recessive, Bifid femur, Gollop-Wolfgang complex, Tetralogy of Fallot, Tibial agenesis",

author = "A. Raas-Rothschild and A. Nir and Z. Ergaz and {Bar Ziv}, J. and Rein, {A. J.J.T.}",

year = "1999",

month = jun,

day = "4",

doi = "10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O",

language = "אנגלית",

volume = "84",

pages = "361--364",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

AU - Raas-Rothschild, A.

AU - Nir, A.

AU - Ergaz, Z.

AU - Bar Ziv, J.

AU - Rein, A. J.J.T.

PY - 1999/6/4

Y1 - 1999/6/4

N2 - We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia- ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

AB - We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia- ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.

KW - Autosomal recessive

KW - Bifid femur

KW - Gollop-Wolfgang complex

KW - Tetralogy of Fallot

KW - Tibial agenesis

UR - http://www.scopus.com/inward/record.url?scp=0033522796&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O

DO - 10.1002/(SICI)1096-8628(19990604)84:4<361::AID-AJMG10>3.0.CO;2-O

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 10340652

AN - SCOPUS:0033522796

SN - 0148-7299

VL - 84

SP - 361

EP - 364

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this