| Autosomal recessive Silver-Russell syndrome. | |
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MedLine Citation:
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PMID: 1285272 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Six children (5 male, 1 female) of normal first cousin Arab parents were found to have Silver-Russell syndrome. Manifestations included intrauterine and postnatal growth retardation, lateral asymmetry, relatively large head, small triangular face with prominent ears, clinodactyly of the fifth fingers, disproportionate toes, and normal psychomotor development. Intrafamilial variability was minimal. Parental consanguinity and affected siblings of both sexes strongly suggest autosomal recessive inheritance. Similar cases from literature are briefly reviewed. |
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Authors:
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A S Teebi |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 1 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1992 Jul |
Date Detail:
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Created Date: 1994-02-18 Completed Date: 1994-02-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 151-6 Citation Subset: IM |
Affiliation:
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Department of Genetics, Yale University School of Medicine, New Haven, CT 06510. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Developmental Disabilities / genetics* Dwarfism / genetics Facial Bones / abnormalities Female Fetal Growth Retardation / genetics* Genes, Recessive* Hand Deformities, Congenital / genetics Humans Male Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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