Neuropediatrics 1995; 26(4): 217-219
DOI: 10.1055/s-2007-979758
Short communications

© Hippokrates Verlag GmbH Stuttgart

Intrafamilial Phenotypic Heterogeneity of the Poland Complex: A Case Report

E. Parano1 , R. Falsaperla1 , V. Pavone2 , A. Toscano3 , E. A. Bolan4 , R. R. Trifiletti4
  • 1Pediatric Clinic, University of Catania, Italy,
  • 2Orthopedic Clinic, University of Catania, Italy,
  • 3Neurologic Clinic, University of Messina, Italy, and
  • 4Department of Neurology, Neuroscience and Pediatrics, The New York Hospital - Cornell Medical Center New York, NY, USA
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Publikationsdatum:
19. April 2007 (online)

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.