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.
Subject(s)
Amelogenesis Imperfecta/diagnosis , Keratoconus/diagnosis , Retinitis Pigmentosa/diagnosis , Situs Inversus/diagnosis , Adult , Amelogenesis Imperfecta/therapy , Cone-Rod Dystrophies , Diagnosis, Differential , Diagnostic Imaging , Genetic Predisposition to Disease , Humans , India , Keratoconus/therapy , Male , Pedigree , Phenotype , Retinitis Pigmentosa/therapy , Situs Inversus/therapyABSTRACT
The authors describe a seminal case report of a 10-year-old boy with enlarged gingivae in relation to his maxillary anterior teeth. The lesion, provisionally diagnosed as idiopathic gingival enlargement, was completely excised and divided into two sections. The histological and immunohistochemical findings in one of the sections showed it to be characteristic of schwannoma while the other section showed indications of idiopathic gingival enlargement. The patient has been followed up carefully and no recurrence has been noted.
