Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

American Journal of Medical Genetics

Volumn 66, Issue 1, 1996, Pages 69-71

  Irons, Mira B ^a,b   Bianchi, Diana W ^a   Geggel, Robert L ^a   Marx, Gerald R ^a   Bhan, Ina ^a  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b TUFTS MEDICAL CENTER   (United States)

Author keywords

atrial septal defect; congenital lymphedema; hydrocele; speech delay

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; ECHOCARDIOGRAPHY; FACE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYDROCELE; LYMPHEDEMA; MALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FACIES; GENES, RECESSIVE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; INFANT; INFANT, NEWBORN; LYMPHEDEMA; MALE; SYNDROME; TESTICULAR HYDROCELE;

HYDROPS;

EID: 0029965627     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O     Document Type: Article

References (14)

1. Bernier-Buzzanga J, Su WPD (1990): Noonan's syndrome with extensive verrucae. Cutis 46:242-246.
2. Crowe CA, Dickerman LH (1986): Brief clinical report: A genetic association between microcephaly and lymphedema. Am J Med Genet 24:131-135.
3. Dubin HV, Creehan P, Headington JT (1974): Lymphangiosarcoma and congenital lymphedema of the extremity. Arch Dermatol 110:608-614.
4. Gabrielli O, Catassi C, Carlucci A, Coppa GV, Giorgi P (1991): Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome. Am J Med Genet 40:244-247.
5. Garg BK (1974): Congenital lymphoedema (Milroy's disease): A report of 10 cases in a family. Indian J Pediatr 41:309-311.
6. Hennekam RCM, Geerdink RA, Hamel BCJ, Hennekam FAM, Kraus P, Rammeloo JA, Tillemans AAW (1989): Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 34:593-600.
7. Hourihane J, Bennett CP, Chaudhuri R, Robb SA, Martin NDT (1993): A sibship with a neuronal migration defect, cerebellar hypoplasia, and congenital lymphedema. Neuropediatrics 24:43-46.
8. Leung AKC (1985): Dominantly inherited syndrome of microcephaly and congenital lymphedema. Clin Genet 27:611-612.
9. Milroy WF (1928): Chronic hereditary edema: Milroy's disease. JAMA 91:1172-1175.
10. Noonan JA (1963): Associated noncardic malformations in children with congenital heart disease. J Pediatr 63:469.
11. Opitz JM (1986): Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedema. Am J Med Genet 24: 127-129.
12. Robinow M, Johnson GF, Verhagen AD (1970): Distichiasis-Lymphedema. Am J Dis Child 119:343-347.
13. Tabbara KF, Baghdassarian SA (1972): Chronic hereditary lymphedema of the legs with congenital conjunctival lymphedema. Am J Ophthalmol 73:531-532.
14. Turner HH (1938): A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23:566.