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Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: A new type of distal arthrogryposis?

✍ Scribed by Sonoda, Tohru; Kouno, Keiichiro

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 39 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000410)91:4<280::aid-ajmg8>3.0.co;2-b

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✦ Synopsis

We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes. The parents were cousins once removed. The combination of the clinical manifestations in the patients and the lack of involvement in their parents are incompatible with any known types of DA, and suggest a new type of DA. The parental consanguinity in the family suggests that the disorder is an autosomal recessive condition, although X-linked inheritance is not ruled out.

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