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We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cieavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomaiies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.
American Journal of Medical Genetics Part A – Wiley
Published: Jul 1, 1988
Keywords: ; ; ;
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