Poland anomaly with unusual associated anomalies: Case report of an apparent disorganization defect
- 1 October 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 52 (4) , 402-405
- https://doi.org/10.1002/ajmg.1320520403
Abstract
We report on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated finger-like tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed.Keywords
This publication has 13 references indexed in Scilit:
- Poland anomaly with contralateral ulnar ray defect.Journal of Medical Genetics, 1993
- Poland anomaly with a limb body wall disruption defect: Case report and reviewAmerican Journal of Medical Genetics, 1992
- Disorganisation: a possible cause of apparent conjoint twinning.Journal of Medical Genetics, 1991
- Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds)Journal of Medical Genetics, 1991
- Human homologue for the mouse mutant disorganisation: does it exist?Journal of Medical Genetics, 1991
- Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.Journal of Medical Genetics, 1991
- Disorganisation: a model for 'early amnion rupture'?Journal of Medical Genetics, 1989
- Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomaliesAmerican Journal of Medical Genetics, 1986
- Polandʼs syndromeJournal of Bone and Joint Surgery, 1976
- Mutation and Cancer: Statistical Study of RetinoblastomaProceedings of the National Academy of Sciences, 1971