[A peculiar syndrome of congenital abnormalities].
Two cases of mental retardation distichia, blepharophimosis, blepharoptosis, synophrys, prominent and long phyllum, auricular defects, palmar simial crease, clinodactyly and lymphedema, in a child and his mother, is represented, suggesting a specific syndrome due to a genetic defect inherited in an autosomal dominant fashion. Two other cases with blepharophimosis, blepharoptosis, prominent and long phyllum and mental retardation are commented, suggesting a different expression of the same genetic defect.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011247:Pregnancy; D013577:Syndrome
Un síndrome peculiar de anomalías congénitas.