Antenatal diagnosis of achondrogenesis type II

Sreelakshmi Kodandapani, V. Ramkumar

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation revealed a fetus with large head, short neck and chest, prominent abdomen and short limbs. Pregnancy was terminated. Radiologic examination of neonate revealed features of achondrogenesis type II. Routine ultrasound screening made early detection and timely management possible.

Original languageEnglish
Pages (from-to)155-157
Number of pages3
JournalJournal of the Nepal Medical Association
Volume48
Issue number174
Publication statusPublished - 01-04-2009
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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