Chondrodysplasia-Pseudohermaphroditism Syndrome

Clinical Features

Nivelon et al. (1992) described 2 sibs with an apparently 'new' chondrodysplasia-pseudohermaphroditism syndrome. Both had severe dwarfism, antenatal in origin, with general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic disc. The first affected sib had shown intrauterine growth retardation on ultrasonography at the age of 5 months, at which time the limbs were considered to be short. The karyotype at that time was 46,XY; however, a phenotypic female was delivered at 38 weeks of gestation. The external genitalia and the internal genitalia, examined by sonography and laparotomy at the age of 14 months, were considered normal. The SRY gene, studied in 2 laboratories, was found to be normal with no deletion. The child was 3 years old at last description. The second affected pregnancy began when the first child was 2.5 years old. The karyotype was normal 46,XX. At 17 weeks of gestation, ultrasound examination showed abnormalities in the vertebral column and thereafter there were other skeletal changes prompting termination of the pregnancy. Both sibs showed narrow, bell-shaped thorax, micromelia, trapezoidal shape of vertebral bodies, abnormal clavicles, and short metacarpals and phalanges. The parents were young and nonconsanguineous.