Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.
Identifieur interne : 00BD72 ( Ncbi/Curation ); précédent : 00BD71; suivant : 00BD73Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.
Auteurs : S. Strenge [Allemagne] ; U G FrosterSource :
- American journal of medical genetics [ 0148-7299 ] ; 1998.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Lymphoedème, Microcéphalie, Troubles de la croissance.
- Adulte, Enfant, Femelle, Humains, Mâle, Pedigree, Syndrome.
English descriptors
- KwdEn :
- MESH :
- genetics : Growth Disorders, Lymphedema, Microcephaly.
- Adult, Child, Female, Humans, Male, Pedigree, Syndrome.
Abstract
Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.
PubMed: 9880217
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