title: Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families.
abstract: We report on two unrelated Amish families with familial occurrence of unusual lymphatic anomalies. The first family had two children, a boy and a girl, with congenital chylothorax both of whom died as a consequence of this condition (one prenatally and one neonatally). The second family has two brothers with isolated cystic hygroma. Neither family has any other individuals affected with any type of lymphatic anomaly. Differential diagnosis and presumed autosomal recessive inheritance pattern will be discussed. Familial cystic hygroma not associated with hydrops fetalis and neonatal death has not been reported previously.
authors.affiliation: Department of Pediatrics, Genetics Clinic Gundersen Lutheran Medical Center, La Crosse, Wisconsin, USA. mwilliam@gc.gundluth.org
authors.forename: M S
authors.initials: MS
authors.lastname: Williams
authors.forename: K D
authors.initials: KD
authors.lastname: Josephson
mesh_terms: D002916:Chylothorax / Q000000981:diagnostic imaging / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D017809:Fatal Outcome; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D018191:Lymphangioma, Cystic / Q000151:congenital / Q000235:genetics; D008208:Lymphatic System / Q000002:abnormalities*; D008297:Male; D013902:Radiography, Thoracic