Short rib‐dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum
- 20 November 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (3) , 359-364
- https://doi.org/10.1002/ajmg.1320590316
Abstract
We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma‐Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.Keywords
This publication has 29 references indexed in Scilit:
- De novo 17q paracentric inversion mosaicism in a patient with Beemer‐Langer type short rib‐polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromesAmerican Journal of Medical Genetics, 1994
- Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfismAmerican Journal of Medical Genetics, 1994
- Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: A new type of SRPS or a more severe expression of a known SRPS entity?American Journal of Medical Genetics, 1993
- New findings in short rib syndromeAmerican Journal of Medical Genetics, 1993
- International classification of osteochondrodysplasiasEuropean Journal of Pediatrics, 1992
- Beemer‐Langer syndrome with manifestations of an orofaciodigital syndromeAmerican Journal of Medical Genetics, 1991
- Short rib syndrome Beemer-Langer type with polydactyly: A multiple congenital anomalies syndromeAmerican Journal of Medical Genetics, 1991
- Orofaciodigital syndrome type IV: Report of a patientAmerican Journal of Medical Genetics, 1989
- Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.Journal of Medical Genetics, 1985
- A new short rib syndrome: Report of two casesAmerican Journal of Medical Genetics, 1983