Microcephaly autosomal dominant

Common Name(s)

Microcephaly autosomal dominant

Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see {251200}) (summary by {9:Merlob et al., 1988}).
 

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Condition Specific Organizations

Following organizations serve the condition "Microcephaly autosomal dominant" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Microcephaly autosomal dominant" returned 4 free, full-text research articles on human participants. First 3 results:

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
 

Author(s): Pia Ostergaard, Michael A Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C Connell, Andreas van Impel, Anthony T Moore, Bart L Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G Leroy, Lut van Laer, Amihood Singer, Martin G Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S Mortimer, Sahar Mansour, Steve Jeffery

Journal: Am. J. Hum. Genet.. 2012 Feb;90(2):356-62.

 

We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema ...

Last Updated: 13 Feb 2012

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Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome.
 

Author(s): I Casteels, K Devriendt, H Van Cleynenbreugel, P Demaerel, F De Tavernier, J P Fryns

Journal: Br J Ophthalmol. 2001 Apr;85(4):499-500.

 

Last Updated: 12 Apr 2001

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Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.
 

Author(s): H G Brunner, R M Winter

Journal: J. Med. Genet.. 1991 Jun;28(6):389-94.

 

We report two families with an autosomal dominant syndrome of abnormalities of the hands and feet, short palpebral fissures, and variable microcephaly with learning disability. Between a third and a quarter of cases are born with oesophageal atresia, duodenal atresia, or both. Individual ...

Last Updated: 13 Sep 1991

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Reviews from the PubMed Database

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The terms "Microcephaly autosomal dominant" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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