Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.
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.
Strenge
S
S
Institut für Humangenetik, Universität Leipzig, Germany.
Froster
U G
UG
D000328:Adult; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome