Seckel syndrome: an overdiagnosed syndrome. Issue 3 (June 1985)

• Record Type: Journal Article
• Authors: Thompson, E; Pembrey, M
• Is Part Of: Journal of medical genetics. Volume 22:Issue 3(1985)
• Page Start: 192
• Page End: 201
• Publication Date: 1985-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.22.3.192
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.