Heredity and dysmorphic syndromes in congenital limb deficiencies.
Isolated limb deficiencies are usually sporadic occurrences. However, if they are associated with other abnormalities or a family history, the risk to future pregnancies may be as high as 50%. A thorough history, examination and investigation of the baby as well as the parents is essential before assessing this recurrence risk. The syndromes associated with limb deficiencies are presented.
Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.
D G
DG
Evans
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Y
Thakker
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D
Donnai
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics*; D000818:Animals; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male