Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. American journal of medical genetics. Part A. [Am J Med Genet A] Journal article

We describe two sibs with postnatal-onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. The combination appears to constitute a previously undescribed syndrome inherited in an autosomal recessive pattern.

American journal of medical genetics. Part A. [Am J Med Genet A]

Abnormalities, Multiple
Atrophy
Cataract
Cerebellum
Cerebral Cortex
Child
Family Health
Female
Growth Disorders
Humans
Joints
Male
Mental Retardation
Osteoporosis
Research Support, Non-U.S. Gov't