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

Sheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, Dhanyalakshmi Narayanan, Laxmi Padmanabhan, Katta Mohan Girisha, Sara S. Cathey, Anne De Paepe, Fransiska Malfait, Delfien Syx, Raoul C. Hennekam, Luisa Bonafe, Sheila Unger, Andrea Superti-Furga

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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 FGFR3 (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.

Original languageEnglish
Pages (from-to)2317-2323
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number9
DOIs
Publication statusPublished - 2014

Fingerprint

Rare Diseases
Tertiary Care Centers
Developing Countries
India
Gatekeeping
Referral and Consultation
Dysostoses
Consanguinity
Osteogenesis Imperfecta
Inborn Genetic Diseases
Bone Diseases
Genetic Counseling
Prenatal Diagnosis
Internet
Bone Density
Counseling
Communication
Therapeutics
Body Remains

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Nampoothiri, Sheela ; Yesodharan, Dhanya ; Sainulabdin, Gazel ; Narayanan, Dhanyalakshmi ; Padmanabhan, Laxmi ; Girisha, Katta Mohan ; Cathey, Sara S. ; De Paepe, Anne ; Malfait, Fransiska ; Syx, Delfien ; Hennekam, Raoul C. ; Bonafe, Luisa ; Unger, Sheila ; Superti-Furga, Andrea. / 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. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 9. pp. 2317-2323.
@article{91f675c383fd480b8905121869e0f1ff,
title = "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",
abstract = "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 FGFR3 (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.",
author = "Sheela Nampoothiri and Dhanya Yesodharan and Gazel Sainulabdin and Dhanyalakshmi Narayanan and Laxmi Padmanabhan and Girisha, {Katta Mohan} and Cathey, {Sara S.} and {De Paepe}, Anne and Fransiska Malfait and Delfien Syx and Hennekam, {Raoul C.} and Luisa Bonafe and Sheila Unger and Andrea Superti-Furga",
year = "2014",
doi = "10.1002/ajmg.a.36668",
language = "English",
volume = "164",
pages = "2317--2323",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "9",

}

Nampoothiri, S, Yesodharan, D, Sainulabdin, G, Narayanan, D, Padmanabhan, L, Girisha, KM, Cathey, SS, De Paepe, A, Malfait, F, Syx, D, Hennekam, RC, Bonafe, L, Unger, S & Superti-Furga, A 2014, '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', American Journal of Medical Genetics, Part A, vol. 164, no. 9, pp. 2317-2323. https://doi.org/10.1002/ajmg.a.36668

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. / Nampoothiri, Sheela; Yesodharan, Dhanya; Sainulabdin, Gazel; Narayanan, Dhanyalakshmi; Padmanabhan, Laxmi; Girisha, Katta Mohan; Cathey, Sara S.; De Paepe, Anne; Malfait, Fransiska; Syx, Delfien; Hennekam, Raoul C.; Bonafe, Luisa; Unger, Sheila; Superti-Furga, Andrea.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 9, 2014, p. 2317-2323.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India

T2 - A model for the diagnosis and treatment of rare diseases in a developing country

AU - Nampoothiri, Sheela

AU - Yesodharan, Dhanya

AU - Sainulabdin, Gazel

AU - Narayanan, Dhanyalakshmi

AU - Padmanabhan, Laxmi

AU - Girisha, Katta Mohan

AU - Cathey, Sara S.

AU - De Paepe, Anne

AU - Malfait, Fransiska

AU - Syx, Delfien

AU - Hennekam, Raoul C.

AU - Bonafe, Luisa

AU - Unger, Sheila

AU - Superti-Furga, Andrea

PY - 2014

Y1 - 2014

N2 - 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 FGFR3 (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.

AB - 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 FGFR3 (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.

UR - http://www.scopus.com/inward/record.url?scp=84905908315&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84905908315&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.36668

DO - 10.1002/ajmg.a.36668

M3 - Article

C2 - 25044831

AN - SCOPUS:84905908315

VL - 164

SP - 2317

EP - 2323

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 9

ER -