A new psychomotor retardation syndrome with peculiar facies and marfanoid habitus.
We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, "arachnodactyloid" hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.
D000293:Adolescent; D000328:Adult; D001827:Body Height; D001927:Brain Diseases / Q000235:genetics; D002540:Cerebral Cortex; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome