Document Detail

Pregnancy in an achondroplastic dwarf: a case report.
MedLine Citation:
PMID:  16498757     Owner:  NLM     Status:  MEDLINE    
Achondroplasia 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.
S Ghumman; N Goel; S Rajaram; K C Singh; B Kansal; P Dewan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Indian Medical Association     Volume:  103     ISSN:  0019-5847     ISO Abbreviation:  J Indian Med Assoc     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2006-02-27     Completed Date:  2006-04-19     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7505608     Medline TA:  J Indian Med Assoc     Country:  India    
Other Details:
Languages:  eng     Pagination:  536, 538     Citation Subset:  IM    
Department of Obstetrics and Gynaecology, University College of Medical Sciences, Guru Tegh Bahadur Hospital, Delhi 110095.
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MeSH Terms
Achondroplasia / diagnosis*,  genetics
Pregnancy Complications / genetics*
Receptor, Fibroblast Growth Factor, Type 3 / genetics
Reg. No./Substance:
EC, Fibroblast Growth Factor, Type 3

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