Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy

Shotelersuk et al. (2003) described a Thai sister and brother, born of healthy, unrelated parents, with a combination of features interpreted as representing a novel autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Both sibs had postnatal-onset growth deficiency, microcephaly with cortical dysplasia and cerebellar atrophy, bilateral lenticular cataracts, prominent supraorbital ridges, large joint contractures, severe osteoporosis, and mental retardation. The brother also had infrequent tonic-clonic seizures beginning at age 5 years, an arachnoid cyst in the right temporal area, bilateral ankle clonus, and upgoing plantar reflexes. Two other sibs were healthy. Shotelersuk et al. (2003) compared and contrasted the syndrome in these 2 sibs with other syndromes characterized by microcephaly, mental retardation, growth failure, and childhood cataracts.