Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

Rama Krishna Sanjeev; Seema Kapoor; Manisha Goyal; Rajiv Kapur; Joseph Gerard Gleeson

doi:10.1155/2015/385910

Case Reports in Pediatrics (Jan 2015)

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

Rama Krishna Sanjeev,
Seema Kapoor,
Manisha Goyal,
Rajiv Kapur,
Joseph Gerard Gleeson

Affiliations

Rama Krishna Sanjeev: Department of Pediatrics, ACMS, India
Seema Kapoor: Division of Genetics, Lok Nayak & Maulana Azad Medical College, New Delhi, India
Manisha Goyal: Department of Paediatrics, Maulana Azad Medical College, New Delhi, India
Rajiv Kapur: Department of Radiology, ACMS, New Delhi, India
Joseph Gerard Gleeson: Neurogenetics Laboratory, Department of Neurosciences and Paediatrics, USA

DOI: https://doi.org/10.1155/2015/385910
Journal volume & issue: Vol. 2015

Abstract

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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).

Published in Case Reports in Pediatrics

ISSN: 2090-6803 (Print); 2090-6811 (Online)
Publisher: Hindawi Limited
Country of publisher: United Kingdom
LCC subjects: Medicine: Pediatrics
Website: https://onlinelibrary.wiley.com/journal/2920

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