Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
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.
Franceschini
P
P
Istituto di Discipline Pediatriche, Servizio di Genetica Clinica, Chivasso, Italy.
Guala
A
A
Vardeu
M P
MP
Signorile
F
F
Franceschini
D
D
Bolgiani
M P
MP
D000015:Abnormalities, Multiple / Q000145:classification* / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D004613:Ellis-Van Creveld Syndrome / Q000145:classification / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000473:pathology*; D017384:Sequence Deletion; D012779:Short Rib-Polydactyly Syndrome / Q000145:classification / Q000473:pathology*; D013577:Syndrome