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Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous
P Franceschini1, A Guala, M P Vardeu
1Istituto di Discipline Pediatriche, Servizio di Genetica Clinica, Chivasso, Italy.
American Journal of Medical Genetics
|November 20, 1995
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.