Molar Tooth Sign with Deranged Liver Function Tests: An Indi
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
COACH syndrome (cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis) is a rare autosomal recessive multisystemic disorder first proposed by Verloes and Lambotte. Joubert syndrome (JS) is characterized by the molar tooth sign (MTS), hypotonia, developmental delay, ataxia, irregular breathing pattern and abnormal eye movements. COACH syndrome is considered by some to be a subtype of Joubert syndrom.We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3)....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449927/
Preview
Dr. M●●●p P●●●l and 2 other likes this
Like
Comment
Share