Intrafamilial phenotypic heterogeneity of the Poland complex: a case report.
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.
Pediatric Clinic, University of Catania, Italy.
E
E
Parano
R
R
Falsaperla
V
V
Pavone
A
A
Toscano
E A
EA
Bolan
R R
RR
Trifiletti
D002081:Buttocks / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D007839:Functional Laterality; D006801:Humans; D008279:Magnetic Resonance Imaging; D010369:Pectoralis Muscles / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D011045:Poland Syndrome / Q000175:diagnosis* / Q000235:genetics*