Tags

Type your tag names separated by a space and hit enter

Meckel-Gruber syndrome.
Kathmandu Univ Med J (KUMJ). 2006 Jul-Sep; 4(3):334-6.KU

Abstract

Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects.

Authors+Show Affiliations

Department of Paediatrics, Manipal Teaching Hospital, Pokhara, Nepal.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18603929

Citation

Ramachandran, U, et al. "Meckel-Gruber Syndrome." Kathmandu University Medical Journal (KUMJ), vol. 4, no. 3, 2006, pp. 334-6.
Ramachandran U, Malla T, Joshi KS. Meckel-Gruber syndrome. Kathmandu Univ Med J (KUMJ). 2006;4(3):334-6.
Ramachandran, U., Malla, T., & Joshi, K. S. (2006). Meckel-Gruber syndrome. Kathmandu University Medical Journal (KUMJ), 4(3), 334-6.
Ramachandran U, Malla T, Joshi KS. Meckel-Gruber Syndrome. Kathmandu Univ Med J (KUMJ). 2006 Jul-Sep;4(3):334-6. PubMed PMID: 18603929.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Meckel-Gruber syndrome. AU - Ramachandran,U, AU - Malla,T, AU - Joshi,K S, PY - 2008/7/8/pubmed PY - 2008/12/17/medline PY - 2008/7/8/entrez SP - 334 EP - 6 JF - Kathmandu University medical journal (KUMJ) JO - Kathmandu Univ Med J (KUMJ) VL - 4 IS - 3 N2 - Meckel- Gruber syndrome is a rare lethal, autosomal disorder. It has been linked to chromosome 17. It consists of a triad of occipital meningoencephalocoele, large polycystic kidneys and post-axial polydactyly. Death is mainly due to pulmonary hypoplasia. We report this rare case which presented with many associated defects. SN - 1812-2078 UR - https://www.unboundmedicine.com/medline/citation/18603929/Meckel_Gruber_syndrome_ L2 - http://www.diseaseinfosearch.org/result/9603 DB - PRIME DP - Unbound Medicine ER -