title: Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.
abstract: We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: R A
authors.initials: RA
authors.lastname: Geerdink
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: F A
authors.initials: FA
authors.lastname: Hennekam
authors.forename: P
authors.initials: P
authors.lastname: Kraus
authors.forename: J A
authors.initials: JA
authors.lastname: Rammeloo
authors.forename: A A
authors.initials: AA
authors.lastname: Tillemans
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008201:Lymphangiectasis, Intestinal / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008209:Lymphedema / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011504:Protein-Losing Enteropathies / Q000235:genetics*