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Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts

✍ Scribed by Pavone, L. ;Incorpora, G. ;Fiumara, A. ;Sorge, G. ;Ramirez, F. ;McGarry, J. ;Wootten, J. ;Minor, R.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 492 KB
Volume: 40
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320400202

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✦ Synopsis

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.

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