Seckel syndrome: an overdiagnosed syndrome.
Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined.
D000293:Adolescent; D002648:Child; D004392:Dwarfism / Q000175:diagnosis / Q000473:pathology; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000473:pathology; D011247:Pregnancy; D013577:Syndrome