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Journal of Medical Genetics 1985;22:192-201; doi:10.1136/jmg.22.3.192
Copyright © 1985 by the BMJ Publishing Group Ltd.

Seckel syndrome: an overdiagnosed syndrome.

E Thompson, M Pembrey

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.


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This article has been cited by other articles:

  • Napolitano, R., Maruotti, G. M., Quarantelli, M., Martinelli, P., Paladini, D. (2009). Prenatal Diagnosis of Seckel Syndrome on 3-Dimensional Sonography and Magnetic Resonance Imaging. J Ultrasound Med 28: 369-374 [Full Text]  

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