title: Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
abstract: Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed supporting autosomal dominant inheritance. A characteristic facial phenotype has recently been suggested. We report three isolated male patients with this condition who have all of the major features and share a distinct facial appearance with upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip, pointed chin and prominent ears. The clinical features in our patients support the hypothesis of a characteristic facial phenotype in this syndrome.
authors.affiliation: Sheffield Children's Hospital, Sheffield, UK Northwick Park Hospital, London, UK Department of Paediatrics, Hospital de Txagorritxu, Vitoria, Spain Department of Paediatrics, Hospital Infantil La Fe, Valencia, Spain Nottingham City Hospital, Nottingham, UK.
authors.forename: Pradeep C
authors.initials: PC
authors.lastname: Vasudevan
authors.forename: Sixto
authors.initials: S
authors.lastname: Garcia-Minaur
authors.forename: Maria Pilar
authors.initials: MP
authors.lastname: Botella
authors.forename: Antonio
authors.initials: A
authors.lastname: Perez-Aytes
authors.forename: Nora L
authors.initials: NL
authors.lastname: Shannon
authors.forename: Oliver W J
authors.initials: OWJ
authors.lastname: Quarrell
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008209:Lymphedema / Q000473:pathology*; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D015792:Retinal Dysplasia / Q000473:pathology*; D013577:Syndrome