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Rare Case of Achodroplasia Couple Delivering Normal Baby

Aritra Maji. , Ashok Kr Maji1 , Aritra Maji2

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Indian Journal of Obstetrics and Gynecology 8(3):p 184-186, July–September 2020. | DOI: http://dx.doi.org/10.21088/ijog.2321.1636.8320.13

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Ashok Kr Maji, Aritra Maji.Rare Case of Achodroplasia Couple Delivering Normal Baby. Indian J Obstet Gynecol. 2020;8(3):
184–186..
 

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Received : N/A         Accepted : N/A          Published : N/A

Abstract

Achodnroplasia is one of the most prevalent form of dwarfism. There is very less literature or protocol for antenatal management of achondroplasia mother. We had a case of an achondroplasia mother who came in labour at 34 weeks of gestation. Her partner was also achondroplasic. Emergency LSCS was done and a healthy baby was extracted. Baby had no features of achondroplasia with normal radiologic and karyotypic evaluation. As achondroplasia is an autosomal dominant disease, the chances of healthy baby for aachondroplasia couple is very rare. There is a 25% chance of healthy baby if both the parents are heterozygouslyachondroplasic.


Keywords: Achondroplasia; Autosomal; Karyotype; Heterozygous; Mutation; Rhizomelic; Hypoplastic.
 

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Cite this article

Ashok Kr Maji, Aritra Maji.Rare Case of Achodroplasia Couple Delivering Normal Baby. Indian J Obstet Gynecol. 2020;8(3):
184–186..
 

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DOI: http://dx.doi.org/10.21088/ijog.2321.1636.8320.13

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