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Further delineation of the acro-renal-ocular syndrome

✍ Scribed by Aalfs, Cora M.; van Schooneveld, Mary J.; van Keulen, Estéban M.; Hennekam, Raoul C. M.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 39 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960329)62:3<276::aid-ajmg14>3.0.co;2-h

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✦ Synopsis

A triad of acral, renal, and ocular abnormalities was reported previously in four families. W e report on a fifth family, in which a mother, one of her four sons and one of her two daughters are affected. Major findings in the acro-renal-ocular syndrome are upper limb abnormalities, mainly thumb hypoplasia, eye abnormalities such as coloboma and Duane anomaly and renal migration defects. A close embryological-temporal relationship between the traits of this entity suggest a common monogenic cause. The pattern of inheritance is probably autoso-ma1 dominant. Because of a wide variability of clinical manifestations, recognition of the syndrome in individual cases may be difficult.

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