Literature DB >> 8544963

Intrafamilial phenotypic heterogeneity of the Poland complex: a case report.

E Parano1, R Falsaperla, V Pavone, A Toscano, E A Bolan, R R Trifiletti.   

Abstract

Three cases of familial unilateral gluteal hypoplasia are reported. The index case in addition to having gluteal hypoplasia also has unilateral pectoral muscle hypoplasia. Another relative has unilateral symbrachydactyly of the distal phalanges of one foot. All four affected individuals in our pedigree were female. We propose that our cases are best classified as part of the Poland complex of anomalies. Our cases emphasize that intrafamilial phenotypic heterogeneity is possible within the Poland complex.

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Year:  1995        PMID: 8544963     DOI: 10.1055/s-2007-979758

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  2 in total

1.  A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome.

Authors:  Andri Miltiadous; Philippos Demetriou; Maria Kyriakou; Petroula Gerasimou; George Herodotou; Agathi Elpidoforou; Yiannos Kyprianou; Maria Iacovou; Jianxiang Chi; Paul Costeas; George A Tanteles
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-04-28

2.  Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.

Authors:  Kenji Gonda; Yosuke Tachiya; Yuichi Hatakeyama; Tomoyuki Momma; Tomoko Tamaoki; Yuko Maejima; Yuichi Rokkaku; Shigehira Saji; Kenju Shimomura; Koji Kono
Journal:  J Med Case Rep       Date:  2018-10-26
  2 in total

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