Literature DB >> 1674682

Beals syndrome: clinical and molecular investigations in a kindred of Indian descent.

D Viljoen1, R Ramesar, D Behari.   

Abstract

Eight members of a 3-generation kindred of Indian descent with congenital contractural arachnodactyly (Beals syndrome) have been appraised. Considerable variation was noted in the clinical features of affected persons, and the previously unreported associated finding of clubbing of the fingers and toes was evident in two individuals. The family was investigated using conventional serum and protein markers, and RFLP probes for type I and II collagen. No linkage in affected members could be demonstrated with type I collagen probes.

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Year:  1991        PMID: 1674682     DOI: 10.1111/j.1399-0004.1991.tb03009.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

Review 1.  Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.

Authors:  Lulu Ma; Xuerong Yu
Journal:  Front Med       Date:  2017-03-02       Impact factor: 4.592

Review 2.  Congenital anomalies of the limbs in mythology and antiquity.

Authors:  Andreas F Mavrogenis; Konstantinos Markatos; Vasilios Nikolaou; Ariadne Gartziou-Tatti; Panayotis N Soucacos
Journal:  Int Orthop       Date:  2018-01-21       Impact factor: 3.075

Review 3.  Congenital contractural arachnodactyly (Beals syndrome).

Authors:  D Viljoen
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

4.  Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.

Authors:  Bartłomiej Kowalczyk; Jarosław Feluś
Journal:  Arch Med Sci       Date:  2016-02-02       Impact factor: 3.318

  4 in total

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