Autosomal recessive microcephaly with severe psychomotor retardation.

Autosomal recessive microcephaly with severe psychomotor retardation. Research Abstract Details 

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Autosomal recessive microcephaly with severe psychomotor retardation. Abstract Text:

I E Scheffer,M Baraitser,J Wilson,C Godfrey,E M Brett,I E Scheffer,M Baraitser,J Wilson,C Godfrey,E M Brett,

Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and other sibling pairs reported in the literature illustrate that microcephaly with spasticity and severe mental retardation may also have autosomal recessive inheritance. Furthermore this severely affected group of patients forms a significant proportion of cases of genetic microcephaly. We looked for specific morphological features to identify these forms of genetic microcephaly for genetic counselling, but failed to find characteristic abnormalities among our group of patients.

Autosomal recessive microcephaly with severe psychomotor retardation. Publishing Authors By Initials

IE Scheffer,M Baraitser,J Wilson,C Godfrey,EM Brett,IE Scheffer,M Baraitser,J Wilson,C Godfrey,EM Brett,

For similar diagnosis: diagnostic techniques and procedures: diagnostic techniques, neurological: neurologic examination research abstracts see: diagnosis: diagnostic techniques and procedures: diagnostic techniques, neurological: neurologic examination research

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Autosomal recessive microcephaly with severe psychomotor retardation. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropediatrics

VOLUME: 23

Page Numbers: 53-6

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Feb

YEAR: 1992

Autosomal recessive microcephaly with severe psychomotor retardation. Information

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LANGUAGE: eng

NlmUniqueID: 8101187

Autosomal recessive microcephaly with severe psychomotor retardation. Keywords Mesh Terms:

KEYWORDS: Neurologic Examination

MESH TERMS: genetics

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Grant and Affiliation Information for Autosomal recessive microcephaly with severe psychomotor retardation.

AFFILIATION: Department of Neurology, Hospital for Sick Children, London, U.K.

Country: GERMANY

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MEDLINETA: Neuropediatrics

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