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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1985 Jun;22(3):192–201. doi: 10.1136/jmg.22.3.192

Seckel syndrome: an overdiagnosed syndrome.

E Thompson, M Pembrey
PMCID: PMC1049424  PMID: 4040172

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.

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Selected References

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