Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

[achondroplasia]

We report on a series of 514 consecutive diagnoses of skeletal dysplasia made over an 8 -year period at a tertiary hospital in Kerala , India . The most common diagnostic groups were dysostosis multiplex group (n = 73 ) followed by FGFR 3 (n = 49 ) and osteogenesis imperfecta and decreased bone density group (n = 41 ). Molecular confirmation was obtained in 109 cases . Clinical and radiographic evaluation was obtained in close diagnostic collaboration with expert groups abroad through Internet communication for difficult cases . This has allowed for targeted biochemical and molecular studies leading to the correct identification of rare or novel conditions , which has not only helped affected families by allowing for improved genetic counseling and prenatal diagnosis but also resulted in several scientific contributions . We conclude that (1 ) the spectrum of genetic bone disease in Kerala , India , is similar to that of other parts of the world , but recessive entities may be more frequent because of widespread consanguinity ; (2 ) prenatal detection of skeletal dysplasias remains relatively rare because of limited access to expert prenatal ultrasound facilities ; (3 ) because of the low accessibility to molecular tests , precise clinical-radiographic phenotyping remains the mainstay of diagnosis and counseling and of gatekeeping to efficient laboratory testing ; (4 ) good phenotyping allows , a significant contribution to the recognition and characterization of novel entities . We suggest that the tight collaboration between a local reference center with dedicated personnel and expert diagnostic networks may be a proficient model to bring current diagnostics to developing countries .

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achondroplasia

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