Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent

Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone–rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the m...

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Published in:Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2015-11, Vol.120 (5), p.e210-e218
Main Authors: Purwar, Parth, BDS, MDS, Sareen, Sagar, BDS, Bhartiya, Kishlay, BDS, Sayed Inayatullah, Sayyed Rayyan, MBBS, MS, Bansal, Mayank, MBBS, DMRD, Chahal, Vikas, MBBS, Gupta, Sanjiv K., MBBS, MS, Dixit, Jaya, BDS, MDS, Sheel, Vaibhav, BDS, Rai, Priya, BDS
Format: Article
Language:English
Subjects:
Adult
Amelogenesis Imperfecta - diagnosis
Amelogenesis Imperfecta - therapy
Dentistry
Diagnosis, Differential
Diagnostic Imaging
Genetic Predisposition to Disease
Humans
India
Keratoconus - diagnosis
Keratoconus - therapy
Male
Pedigree
Phenotype
Retinitis Pigmentosa - diagnosis
Retinitis Pigmentosa - therapy
Situs Inversus - diagnosis
Situs Inversus - therapy
Surgery
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Description
Summary:Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone–rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal transporter gene CNNM4 . The case report presented here describes JS with distinct phenotypic variations such as situs inversus totalis (SIT) along with additional ophthalmic findings such as keratoconus and ectopia lentis. It is the first case of JS reported from the Indian subcontinent, affecting a male patient of Muslim faith from an area having high fluoride levels in the ground water. A positive history of consanguineous marriage among his family members of past generations was also evident.
ISSN:2212-4403
2212-4411
DOI:10.1016/j.oooo.2015.04.002