Literature DB >> 7468656

Familial occurrence of bifid femur and monodactylous ectrodactyly.

T R Gollop, E Lucchesi, R M Martins, A S Nione.   

Abstract

Two brothers each had one normal upper limb; one had tridactylous ectrodactyly of one hand with normal forearm bones; the other had monodactyly of one hand with absent ipsilateral ulna. Both had monodactyly of the feet, absence of the tibiae, and unilateral bifurcation of the femur. A sister of the paternal grandfather was purportedly similarly affected. Since her parents and the father and paternal grandfather of the affected boys were normal, the pattern of inheritance of the trait in this family is presently unclear.

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Year:  1980        PMID: 7468656     DOI: 10.1002/ajmg.1320070313

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Authors:  Ruizhi Duan; Hadia Hijazi; Elif Yilmaz Gulec; Hatice Koçak Eker; Silvia R Costa; Yavuz Sahin; Zeynep Ocak; Sedat Isikay; Ozge Ozalp; Sevcan Bozdogan; Huseyin Aslan; Nursel Elcioglu; Débora R Bertola; Alper Gezdirici; Haowei Du; Jawid M Fatih; Christopher M Grochowski; Gulsen Akay; Shalini N Jhangiani; Ender Karaca; Shen Gu; Zeynep Coban-Akdemir; Jennifer E Posey; Yavuz Bayram; V Reid Sutton; Claudia M B Carvalho; Davut Pehlivan; Richard A Gibbs; James R Lupski
Journal:  HGG Adv       Date:  2022-08-04

2.  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

3.  Femoral bifurcation and bilateral tibial hemimelia: case report.

Authors:  Joshua Ondari; James Kinyanjui; Paul Miano; Edward Sang; Ezekiel Oburu; Michael Maru
Journal:  Pan Afr Med J       Date:  2018-06-05
  3 in total

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