Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis

The clinical courses. neuroimaging and muscle biopsy findings of two infant s born to an inbred Arab family are described. They had a syndrome of micre ncephaly with simplified gyral pattern, abnormal myelin formation and arthr ogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced b y adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.