The Meckel Syndrome: Report of Two Japanese Sibs and a Review of Literature

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 67, Issue 3, 1996, Pages 312-314

  Sugiura, Yasuo ^a,d   Suzuki, Yoshiro ^b   Kobayashi, Masanori ^c  

^a Hachiya Orthopaedic Hospital   (Japan)

^b NAGOYA UNIVERSITY HOSPITAL   (Japan)

^c NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

^d NONE   (Japan)

Author keywords

Autosomal recessive inheritance; Cystic kidneys; Encephalocele; Meckel syndrome; Polydactyly

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 17Q; CHROMOSOME MAP; ENCEPHALOCELE; FEMALE; HUMAN; KARYOTYPE; KIDNEY POLYCYSTIC DISEASE; MALE; MECKEL SYNDROME; NEWBORN; POLYDACTYLY; PRIORITY JOURNAL; SIBLING;

FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MECKEL DIVERTICULUM;

EID: 0029948958     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960531)67:3<312::AID-AJMG8>3.0.CO;2-O     Document Type: Review

References (6)

1. Genauardi M, Dionishi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotrigno G, Martini Neri ME (1993): Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. Am J Med Genet 47:50-53.
2. Herriot R, Hallam LA, Gray ES (1991): Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet 39:365-369.
3. Paavola P, Salonen R, Weissenbach J, Peltonen L (1995): The locus for Meckel syndrome with mutliple congenital anomalies maps to chromosome 17q21-q24. Nature Genet 11:213-215.
4. Salonen R (1984): The Meckel syndrome: Clinicopathological findings in 67 patients. Am J Med Genet 18:671-689.
5. Summers MC, Donnenfeld AE (1995): Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet 56:57-61.
6. Walpole IR, Goldblatt J, Hockey A, Knowles S (1991): Dandy-Walker malformation (variant), cystic kidneys and hepatic fibrosis: A distinct entity or Meckel syndrome. Am J Med Genet 39: 294-298.