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Genetic skeletal dysplasia in Thailand: the Siriraj experience.
Southeast Asian J Trop Med Public Health. 1995; 26 Suppl 1:59-67.SA

Abstract

Genetic skeletal dysplasias are a heterogeneous group of genetic disorders associated with abnormalities in the skeletal system frequently presenting with disproportionate short stature. There are over 100 distinct skeletal dysplasias which have been classified primarily on the basis of the clinical or radiographic characteristics. We have identified many genetic skeletal dysplasia disorders at Department of Pediatrics, Siriraj Hospital, Bangkok, Thailand. We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets. We have established a Genetic Skeletal Dysplasia Clinic at Siriraj Hospital since 1992, and see referrals from around the country. Genetic counseling is provided, including prenatal diagnosis and a multidisciplinary approach.

Authors+Show Affiliations

Medical Genetics Unit, Siriraj Hospital Faculty of Medicine Mahidol University, Bangkok, Thailand.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8629144

Citation

Wasant, P, et al. "Genetic Skeletal Dysplasia in Thailand: the Siriraj Experience." The Southeast Asian Journal of Tropical Medicine and Public Health, vol. 26 Suppl 1, 1995, pp. 59-67.
Wasant P, Waeteekul S, Rimoin DL, et al. Genetic skeletal dysplasia in Thailand: the Siriraj experience. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:59-67.
Wasant, P., Waeteekul, S., Rimoin, D. L., & Lachman, R. S. (1995). Genetic skeletal dysplasia in Thailand: the Siriraj experience. The Southeast Asian Journal of Tropical Medicine and Public Health, 26 Suppl 1, 59-67.
Wasant P, et al. Genetic Skeletal Dysplasia in Thailand: the Siriraj Experience. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:59-67. PubMed PMID: 8629144.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic skeletal dysplasia in Thailand: the Siriraj experience. AU - Wasant,P, AU - Waeteekul,S, AU - Rimoin,D L, AU - Lachman,R S, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 59 EP - 67 JF - The Southeast Asian journal of tropical medicine and public health JO - Southeast Asian J Trop Med Public Health VL - 26 Suppl 1 N2 - Genetic skeletal dysplasias are a heterogeneous group of genetic disorders associated with abnormalities in the skeletal system frequently presenting with disproportionate short stature. There are over 100 distinct skeletal dysplasias which have been classified primarily on the basis of the clinical or radiographic characteristics. We have identified many genetic skeletal dysplasia disorders at Department of Pediatrics, Siriraj Hospital, Bangkok, Thailand. We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets. We have established a Genetic Skeletal Dysplasia Clinic at Siriraj Hospital since 1992, and see referrals from around the country. Genetic counseling is provided, including prenatal diagnosis and a multidisciplinary approach. SN - 0125-1562 UR - https://www.unboundmedicine.com/medline/citation/8629144/Genetic_skeletal_dysplasia_in_Thailand:_the_Siriraj_experience_ DB - PRIME DP - Unbound Medicine ER -