Achondrogenesis type II with polydactyly
- 6 November 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (2) , 157-160
- https://doi.org/10.1002/ajmg.1320590208
Abstract
We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer‐Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short‐rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed.Keywords
This publication has 13 references indexed in Scilit:
- Lethal osteochondrodysplasia and de novo autosomal translocation involving the long arm of chromosome 4American Journal of Medical Genetics, 1994
- Chromosome 4p16 and osteochondroplasiasNature Genetics, 1994
- A gene for achondroplasia–hypochondroplasia maps to chromosome 4pNature Genetics, 1994
- The gene for achondroplasia maps to the telomeric region of chromosome 4pNature Genetics, 1994
- Short rib-polydactyly syndrome and pericentric inversion of chromosome 4American Journal of Medical Genetics, 1994
- International classification of osteochondrodysplasiasAmerican Journal of Medical Genetics, 1992
- Mapping of the human type II collagen gene (COL2A1) proximal to fra(12)(q13.1) by nonisotopic in situ hybridizationCytogenetic and Genome Research, 1990
- Achondrogenesis type I: Delineation of further heterogeneity and identification of two distinct subgroupsThe Journal of Pediatrics, 1988
- Inv(4)(p16q21). A five-generation pedigree with 24 carriers and no recombin antsClinical Genetics, 1987
- Achondrogenesis II–hypochondrogenesis: Variability versus heterogeneityAmerican Journal of Medical Genetics, 1986