The Johanson-Blizzard syndrome: A case report;Syndrome de Johanson-Blizzard: À propos d'un cas

Archives de Pediatrie

Volumn 9, Issue 11, 2002, Pages 1163-1165

  Mcheik, J N ^a   Hendiri, L ^a   Vabres, P ^a   Berthier, M ^a   Cardona, J ^a   Bonneau, D ^a   Levard, G ^a  

^a POITIERS UNIVERSITY HOSPITAL   (France)

Author keywords

Abnormalities, multiple; Ectodermal dysplasia; Face; Imperforate anus; Infant, newborn; Pancreatic insufficiency

Indexed keywords

ENZYME;

ANORECTAL MALFORMATION; ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH; CASE REPORT; CLINICAL TRIAL; COLOSTOMY; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; GENDER; HUMAN; INFANT; JOHANSON BLIZZARD SYNDROME; MALE; PANCREAS INSUFFICIENCY; SKIN APLASIA; SUPPLEMENTATION;

ABNORMALITIES, MULTIPLE; ANAL CANAL; ANUS, IMPERFORATE; COLOSTOMY; EXOCRINE PANCREATIC INSUFFICIENCY; HUMANS; INFANT, NEWBORN; MALE; RECTUM; SKIN DISEASES; SYNDROME;

EID: 18844480943     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(02)00097-0     Document Type: Article

References (11)

1. Johanson AA, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 1971;79:982-7.
2. Hurst JA, Baraitser M. Johanson-Blizzard syndrome. J Med Genet 1989;26:45-8.
3. Schussheim A, Choi SJ, Silverberg M. Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 1976;89:782-4.
4. Day DY, Israel JN. Inheritance of Johanson-Blizzard syndrome. Presented at X Birth Defects Conference, Memphis, June 1977 (Abstract p. 87). Discussion by M. Robinow.
5. Mardini MK, Ghandour M, Sakati NA, Nyhan WL. Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 1978;14:247-50.
6. Daentl DL, Frias JL, Gilbert EF, Opitz JM. The Johanson-Blizzard syndrome: Case report and autopsy findings. Am J Med Genet 1979;3:129-35.
7. Moeschler JB, Lubinsky MS. Johanson-Blizzard syndrome with normal intelligence. Am J Med Genet 1985;22:69-73.
8. Maunoury V, Nieuwarts S, Ferrix J, Ernst O. Lipomatose pancréatique révélatfice d'un syndrome de Johanson-Blizzard. Gastroenterol Clin Biol 1999;23:1099-101.
9. Braun J, Lerner A, Gershoni-Baruch R. The temporal bone in the Johanson-Blizzard syndrome. A CT study. Pediatr Radiol 1991;21:580-3.
10. Gershoni-Baruch R, Lerner A, Braun J, Katzir Y, Iancu TC, Benderly A. Johanson-Blizzard syndrome: Clinical spectrum an further delineation of the syndrome. Am J Med Genet 1990;35:546-51.
11. Auslander R, Nevo O, Diukman R, Morrad E, Bardicef M, Abramovici H. Johanson-Blizzard syndrome: A prenatal ultrasonographic diagnosis. Ultrasound Obstet Gynecol 1999;13:450-2.