Further delineation of the acro-renal-ocular syndrome.
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.
Aalfs
C M
CM
Institute of Human Genetics, Academic Medical Center, Amsterdam, Netherlands.
van Schooneveld
M J
MJ
van Keulen
E M
EM
Hennekam
R C
RC
D000328:Adult; D005124:Eye Abnormalities / Q000150:complications*; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014599:Uterus / Q000002:abnormalities*