Literature DB >> 9880217

Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.

S Strenge1, U G Froster.   

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.

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Year:  1998        PMID: 9880217     DOI: 10.1002/(sici)1096-8628(19981228)80:5<506::aid-ajmg13>3.0.co;2-1

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Authors:  Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

  1 in total

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