Pregnancy in an achondroplastic dwarf: a case report.

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dc.contributor.authorGhumman, Sen_US
dc.contributor.authorGoel, Nen_US
dc.contributor.authorRajaram, Sen_US
dc.contributor.authorSingh, K Cen_US
dc.contributor.authorKansal, Ben_US
dc.contributor.authorDewan, Pen_US
dc.date.accessioned2005-10-28en_US
dc.date.accessioned2009-05-31T06:55:58Z
dc.date.available2005-10-28en_US
dc.date.available2009-05-31T06:55:58Z
dc.date.issued2005-10-28en_US
dc.description.abstractAchondroplasia is a rare disorder occurring 1 in 1 5,000 to 1 in 40,000 live births. It is, however, the commonest cause of short-limbed dwarfism. It is a genetic disorder and inherited as an autosomal dominant trait but most cases (80%) are due to mutations of fibroblast growth factor receptor 3 (FGFR3). These individuals have normal mental and sexual development, and life span may be normal. Certain gynaecological problems like infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause are more common in these patients. Information regarding obstetric behaviour in achondroplastic females is scarce in literature. However, problems such as pre-eclampsia, polyhydramnios, respiratory compromise, contracted pelvis necessitating lower section caesarean section, prematurity and foetal wastage, etc, have been reported. General anaesthesia is preferred to regional anaesthesia because of the spinal abnormalities. There is increased neonatal mortality due to hydrocephalus and thoracic cage abnormality. Such a patient is considered high risk in terms of anaesthesia and obstetric outcome and there is enough room for prenatal counselling and diagnosis. Here a case of achondroplasia with pregnancy is reported. The patient, an achondroplastic dwarf presented with 30 weeks pregnancy. She was prenatally screened with ultrasonography to rule out affection in baby. She had a caesarean section for contracted pelvis.en_US
dc.description.affiliationDepartment of Obstetrics and Gynaecology, University College of Medical Sciences, Guru Tegh Bahadur Hospital, Delhi 110095.en_US
dc.identifier.citationGhumman S, Goel N, Rajaram S, Singh KC, Kansal B, Dewan P. Pregnancy in an achondroplastic dwarf: a case report. Journal of the Indian Medical Association. 2005 Oct; 103(10): 536, 538en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/96455
dc.language.isoengen_US
dc.source.urihttps://www.jimaonline.org.in/en_US
dc.subject.meshAchondroplasia --diagnosisen_US
dc.subject.meshAdulten_US
dc.subject.meshDwarfismen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMutationen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Complications --geneticsen_US
dc.subject.meshReceptor, Fibroblast Growth Factor, Type 3 --geneticsen_US
dc.titlePregnancy in an achondroplastic dwarf: a case report.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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