Robinow syndrome: report of one case

Abstract

We report a 2-month-old infant with Robinow syndrome. Clinical manifestations included short stature, characteristic facies, mesomelic brachymelia, brachydactyly, camptodactyly, duplication of thumbs, hypoplasia of clitoris, and deformed pronated foot. A cytogenetic study revealed a normal female karyotype. Chest radiography showed rib anomalies, a vertebral anomaly in T8, narrowing of interpedicular distances and flaring with slight thickening of the bone cortex in the bilateral humeral bone. Hand and foot radiography showed generalized shortening include unequal size of metacarpal, metatarsal and phalangeal bones. In our case, sporadic or autosomal recessive inheritance was most likely. The literature is reviewed.