Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type

Clinical Features

Verloes et al. (1990) described 2 male sibs with a hitherto undescribed multiple congenital anomaly/mental retardation (MCA/MR) syndrome. The brothers shared the following clinical characteristics: postnatal growth deficiency, obesity, coarse facial features with deep-set small eyes, and severe genital anomalies resulting in sexual ambiguity. Mental retardation was profound in one; the other sib was only slightly retarded. Although the features suggested the Borjeson-Forssman-Lehmann syndrome (BFLS; 301900), the patients were thought not to fit completely with any previously known syndrome. De Die-Smulders et al. (1994) reported a moderately mentally retarded adult male with genital anomalies and facial features resembling those in the patients of Verloes et al. (1990). As illustrated in the figures, the patient had short neck with low posterior hairline and lateral webbing. Radiography demonstrated cervical spina bifida. There had been no speech development and audiologic testing showed severe sensorineural hearing loss. On eye examination, he was found to have bilateral coloboma of the choroid and temporal displacement of both maculae. At the time of the report, the patient was 42 years old.

Inheritance

The transmission pattern of this disorder is consistent with autosomal recessive or X-linked recessive inheritance (de Die-Smulders et al., 1994).