Further delineation of the acro-renal-ocular syndrome

Aalfs, C. M.; van Schooneveld, M. J.; van Keulen, E. M.; Hennekam, R. C.

doi:10.1002/(sici)1096-8628(19960329)62:3<276::aid-ajmg14>3.0.co;2-h

A triad of acral, renal, and ocular abnormalities was reported previously in four families. We 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 autosomal dominant. Because of a wide variability of clinical manifestations, recognition of the syndrome in individual cases may be difficult.