Literature DB >> 565745

Familial occurrence of severe ulnar aplasia and lobster claw feet: a new syndrome.

H van den Berghe, J Dequeker, J P Fryns, G David.   

Abstract

In this paper we describe a previously unreported association of ulnar defect and lobster-claw deformity of the feet, occurring in four males belonging to two generations of the same family. Minor expression of the same ulnar reduction defect in female relatives suggests X-linked recessive inheritance, but an autosomal dominant with irregular expression cannot be excluded.

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Year:  1978        PMID: 565745     DOI: 10.1007/bf00291633

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  4 in total

1.  III. A Case of Deformity of the Fore-Arm and Hands, with an unusual History of Hereditary Congenital Deficiency.

Authors:  A S Roberts
Journal:  Ann Surg       Date:  1886-02       Impact factor: 12.969

2.  [Ulno-fibular dysplasia. An autosome-dominant hereditary micromesomelia resembling the Nievergelt syndrome].

Authors:  K Reinhardt; R A Pfeiffer
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1967-09

3.  Ulnar dysmelia.

Authors:  J A Ogden; H K Watson; W Bohne
Journal:  J Bone Joint Surg Am       Date:  1976-06       Impact factor: 5.284

4.  [Defects of the femur and fibula with amelia, peromelia or ulnar defects of the arm. A syndrome].

Authors:  D Kühne; W Lenz; D Petersen; H Schönenberg
Journal:  Humangenetik       Date:  1967
  4 in total
  4 in total

1.  X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

Authors:  M Ahmad; H Abbas; S Haque; G Flatz
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

2.  Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1.

Authors:  M Faiyaz ul Haque; S Uhlhaas; M Knapp; H Schüler; W Friedl; M Ahmad; P Propping
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.

Authors:  F Majewski; W Küster; B ter Haar; T Goecke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.

Authors:  G Bujdoso; W Lenz
Journal:  Eur J Pediatr       Date:  1980-05       Impact factor: 3.183

  4 in total

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