Achondrogenesis type II: Case report

Achondrogenesis is a lethal dysplasia and has a 25% risk of recurrence, so that the pregnancy must be terminated when diagnosed and genetic counseling must be given to the families.

📌 3 Key Takeaways

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Objective & Hypothesis:Achondrogenesis is the second most commonly observed among osteochondrodysplasias, but a very rare congenital anomaly.

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Key Findings & Data:It has autosomal recessive inheritance.

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Conclusion & Impact:Achondrogenesis is a lethal dysplasia and has a 25% risk of recurrence, so that the pregnancy must be terminated when diagnosed and genetic counseling must be given to the families.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Akondroplazi · Doğum öncesi tanı · Ultrasonografi

Abstract

Achondrogenesis is the second most commonly observed among osteochondrodysplasias, but a very rare congenital anomaly. It has autosomal recessive inheritance. An achondrogenesis case, that was diagnosed prenatally by ultrasonography is presented. Achondrogenesis is a lethal dysplasia and has a 25% risk of recurrence, so that the pregnancy must be terminated when diagnosed and genetic counseling must be given to the families.

Özet

Akondrogenezis osteokondrodisplaziler içinde ikinci sıklıkta görülen ancak nadir rastlanan konjenital anomalidir. Otozomal resesif geçiş özelliği gösterir. Prenatal dönemde ultrasonografi ile tanısı konmuş akondrogenezis olgusu sunulmuştur. Akondrogenezis letal bir diplazi olup, %25 oranında tekrarlama riskinin olması nedeniyle tespit edildiğinde gebeliğin sonlandırılması ve ailelere genetik danışmanlık önerilmesi gerekir.

Keywords

Akondroplazi Doğum öncesi tanı Ultrasonografi prenatal Doğumsal kalıtsal ve yenidoğan hastalıkları ve anormallikleri Osteokondrodisplazi Achondroplasia Prenatal Diagnosis Ultrasonography Prenatal Congenital Hereditary and Neonatal Diseases and Abnormalities Osteochondrodysplasias

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Cite This Article

BAŞOĞUL, N., SANCI, M., BAŞOĞUL, Ö., TINAR, Ş., SAYHAN, S., DİCLE, N. (2002). Achondrogenesis type II: Case report. Medical Network Klinik Bilimler ve Doktor, Cilt: 8 - Sayı: 5, 652–654. https://ajindex.com/articles/278553

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