[Coffin-Lowry syndrome. Description of 2 cases associated with cardiovascular anomalies].
In this work the authors describe two cases of Coffin-Lowry syndrome, diagnosed in two brothers of different age and with a different degree of evolution of the illness. The brothers present the mitral prolapse association. The clinic and instrumental examination have been executed. The various pathogenetic hypothesis have been discussed and the authors propose the most recent that considers the fibroblast incapable to produce the substances of connective matrix. This hypothesis explain also the evolution and the progression of the lesion at the interested organs (skin, joints, bones, heart). The illness is genetic, with a X-linked, semidominant transmission.
Della Cella
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G
Ospedale Leonardi-Riboli di Chiavari, Genova, Italia.
Stagnaro
M G
MG
Beluschi
C
C
Forni
G L
GL
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D005147:Facial Bones / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009958:Orofaciodigital Syndromes / Q000235:genetics; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics; D013577:Syndrome
La sindrome di Coffin-Lowry. Descrizioni di due casi con associazione di anomalie cardiovascolari.