title: Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
abstract: We report on a follow-up examination of a family with microcephaly and lymphedema. The finding of chorioretinal dysplasia with variable visual deficit in multiple relatives, which was not previously discovered, supports the concept of microcephaly, lymphedema, and chorioretinopathy as being a single autosomal dominant genetic entity with variable expression. We recommend that fundoscopic examination be performed in all patients with microcephaly with or without lymphedema.
authors.affiliation: Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA.
authors.forename: C
authors.initials: C
authors.lastname: Limwongse
authors.forename: R E
authors.initials: RE
authors.lastname: Wyszynski
authors.forename: L H
authors.initials: LH
authors.lastname: Dickerman
authors.forename: N H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D000293:Adolescent; D002829:Choroid / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D015792:Retinal Dysplasia / Q000235:genetics*; D013577:Syndrome