Early death in two sisters with Hennekam syndrome

American Journal of Medical Genetics

Volumn 93, Issue 3, 2000, Pages 181-183

  Scarcella, A ^a   De Lucia, A ^a   Pasquariello, M B ^a   Gambardella, P ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Extensive lymphangiomatosis; Heart defect; Hennekam syndrome; Hypertrophic pyloric stenosis; Intestinal lymphangiectasia; Primary hypothyroidism

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONGENITAL DISORDER; FACE MALFORMATION; FATALITY; FEMALE; HENNEKAM SYNDROME; HUMAN; HYPERTROPHIC PYLORUS STENOSIS; HYPOTHYROIDISM; INFANT; INTESTINE LYMPHANGIECTASIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; SYNDROME;

ABNORMALITIES, MULTIPLE; FACE; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; HYPOTHYROIDISM; INFANT; INTESTINES; PHENOTYPE; PROTEIN-LOSING ENTEROPATHIES; PYLORIC STENOSIS; SYNDROME;

EID: 0034640670     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000731)93:3<181::AID-AJMG3>3.0.CO;2-B     Document Type: Article

References (8)

1. Expansion of the phenotype in Hennekam syndrome: A case with new manifestations
2. Craniosynostosis and kidney malformation in a case of Hennekam syndrome
3. Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome
4. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
5. Congenital pulmonary lymphangiectasis with chylothorax: A heterogeneous lymphatic vessel abnormality
6. Diffuse pulmonary lymphangiomatosis
7. Persistence of Mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies
8. Protein-losing gastroenteropathy with facial anomaly and growth retardation: A mild case of Hennekam syndrome