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Phocomelia Syndrome OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=269000

Description: Herrmann et al. (1969) described a syndrome consisting of the following features: (1) nearly symmetrical reductive malformations of the limbs, resembling phocomelia; (2) flexion contractures of various joints; (3) multiple minor anomalies, including capillary hemangioma of the face, forehead and ears, hypoplastic cartilages of the ears and nose, micrognathia, scanty, silvery-blond hair, and cloudy corneas; (4) intrauterine and extrauterine growth retardation; (5) possibly mental retardation, and (6) autosomal recessive inheritance.

Type: Reference Material
Author/Contact: Not Available
Institution: OMIM
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Language: English

Submitted by: admin
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Added: Fri Mar 05 2010