Pregnancy in an Achondroplastic Dwarf: A Case Report

J Indian Med Assoc. 2005 Oct;103(10):536, 538.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Achondroplasia / diagnosis*
  • Achondroplasia / genetics
  • Adult
  • Dwarfism
  • Female
  • Humans
  • Mutation
  • Pregnancy
  • Pregnancy Complications / genetics*
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • Receptor, Fibroblast Growth Factor, Type 3