Spectrum of severe skeletal dysplasias in North India.

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dc.contributor.authorPuri, Ratna Den_US
dc.contributor.authorThakur, Seemaen_US
dc.contributor.authorVerma, I Cen_US
dc.date.accessioned2007-11-07en_US
dc.date.accessioned2009-05-30T12:24:46Z
dc.date.available2007-11-07en_US
dc.date.available2009-05-30T12:24:46Z
dc.date.issued2007-11-07en_US
dc.description.abstractOBJECTIVE: Severe skeletal dysplasias are a group of bone growth disorders characterized by a lethal outcome in utero or infancy. We describe our experience of the severe skeletal dysplasias diagnosed amongst fetal autopsies done at a tertiary level centre over a five year period. METHODS: We evaluated 15 cases with short limbed dwarfism, of which 13 fetuses were examined after termination of pregnancy and two were evaluated postnatally. RESULTS: Short rib dysplasia syndromes with or without polydactyly, osteogenesis imperfecta type II, thanatophoric dysplasia, campomelic dysplasia, chondrodysplasia punctata, rhizomelic type and achondrogenesis were the lethal skeletal dysplasias diagnosed. CONCLUSION: Precise identification of the tye of skeletal dysplasia is paramount for proper genetic counseling. Postnatal examination and detailed radiographic examination of the fetus especially of the pelvis, limbs, skull and spine are essential to identify the type of skeletal dysplasia.en_US
dc.description.affiliationDepartment of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. icverma@airtelbroadband.inen_US
dc.identifier.citationPuri RD, Thakur S, Verma IC. Spectrum of severe skeletal dysplasias in North India. Indian Journal of Pediatrics. 2007 Nov; 74(11): 995-1002en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/80660
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshBone Diseases, Developmental --epidemiologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIndia --epidemiologyen_US
dc.subject.meshPregnancyen_US
dc.subject.meshRetrospective Studiesen_US
dc.subject.meshUltrasonography, Prenatalen_US
dc.titleSpectrum of severe skeletal dysplasias in North India.en_US
dc.typeJournal Articleen_US
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