title: Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.
abstract: We report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type I procollagen to collagen in the culture medium. We think that the pattern of clinical anomalies constitutes a previously unreported syndrome with type I procollagen defect as a manifestation of the syndrome.
authors.affiliation: Clinica Pediatrica, Università di Catania, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Pavone
authors.forename: G
authors.initials: G
authors.lastname: Incorpora
authors.forename: A
authors.initials: A
authors.lastname: Fiumara
authors.forename: G
authors.initials: G
authors.lastname: Sorge
authors.forename: F
authors.initials: F
authors.lastname: Ramirez
authors.forename: J
authors.initials: J
authors.lastname: McGarry
authors.forename: J
authors.initials: J
authors.lastname: Wootten
authors.forename: R
authors.initials: R
authors.lastname: Minor
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism*; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D003095:Collagen Diseases / Q000151:congenital* / Q000378:metabolism; D004551:Elbow Joint; D004591:Electrophoresis, Polyacrylamide Gel; D006618:Hip Dislocation, Congenital / Q000378:metabolism; D006801:Humans; D004204:Joint Dislocations / Q000151:congenital* / Q000378:metabolism; D007593:Joint Instability / Q000151:congenital* / Q000378:metabolism; D008297:Male; D011347:Procollagen / Q000378:metabolism*; D013577:Syndrome
chemical_list: D011347:Procollagen