Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.
Oral Surg Oral Med Oral Pathol Oral Radiol
; 120(5): e210-8, 2015 Nov.
Article
in En
| MEDLINE
| ID: mdl-26117809
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Situs Inversus
/
Retinitis Pigmentosa
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Amelogenesis Imperfecta
/
Keratoconus
Type of study:
Diagnostic_studies
Limits:
Adult
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Oral Surg Oral Med Oral Pathol Oral Radiol
Year:
2015
Document type:
Article