Achondroplasia Berulang pada Orangtua dengan Perawakan Normal: Laporan Kasus

Fatima Zahra, Adhi Pribadi


Abstract


Achondroplasia adalah penyebab paling umum dari perawakan pendek yang tidak proporsional. Individu yang terkena memiliki pemendekan rhizomelia pada anggota badan, makrosefali, dan fitur wajah yang khas. Diagnosis achondroplasia dapat ditegakkan dengan temuan klinis dan radiografi yang khas pada sebagian besar individu yang terkena. Identifikasi varian patogen heterozigot pada FGFR3 dapat membantu menegakkan diagnosis. Kejadian rekurensi achondroplasia pada orangtua dengan perawakan normal sangat jarang terjadi. Pada presentasi kasus ini, kami melaporkan achondroplasia berulang pada orangtua dengan perawakan normal, dengan ditemukan mutasi pada gen FGFR3.

Recurrent Achondroplasia in Average Stature Parents : A Case Report

Abstract

Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. Identification of a heterozygous pathogenic variant in FGFR3 can establish the diagnosis. Recurrent achondroplasia in average stature parents is a very rare case. In this case presentation, we report recurrent achondroplasia in average stature parents with proven mutation of FGFR3 gene mutation.

Keyword: recurrent achondroplasia, FGFR3 mutation


Keywords


achondroplasia berulang, mutasi FGFR3

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DOI: http://dx.doi.org/10.24198/obgynia.v6i2.479

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