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https://doi.org/10.1038/ng0395-321

has been cited by the following article:

• TITLE: Prenatal Diagnosis and Management of Thanatophoric Dysplasia Type 1: A Case Report and Literature Review

  AUTHORS: Ayoub Ezzidi, Aziz El Mahfoudi, Bouchra Fakhir, Bahia El Horre, Boukhanni Lahcen, Karam Harrou, Hamid Asmouki, Abdrraouf Soummani

  KEYWORDS: Thanatophoric Dysplasia, FGFR3 Gene, Prenatal Diagnosis, Micromelia, Pulmonary Hypoplasia, Lethal Skeletal Dysplasia

  JOURNAL NAME: Open Access Library Journal, Vol.12 No.5, May 28, 2025

  ABSTRACT: Thanatophoric dysplasia (TD) is a rare and lethal skeletal disorder caused by fibroblast growth factor receptor 3 (FGFR3) gene mutations, leading to severe skeletal abnormalities and neonatal mortality. We report a prenatal diagnosis of TD Type 1 (TD1) in a 38-year-old gravida 6 para 3 with a history of two neonatal deaths, highlighting the importance of early detection and empathetic counseling. At 24 weeks of gestation, prenatal imaging revealed profound micromelia, curved femurs, and a narrow thoracic cavity, consistent with TD1. Despite the poor prognosis, the patient continued the pregnancy. At 34 weeks and 2 days, she delivered a severely malformed newborn who died shortly after birth due to respiratory failure secondary to pulmonary hypoplasia. Molecular confirmation was declined by the family. This case underscores the critical role of prenatal ultrasound in diagnosing TD1 early, enabling informed decision-making and compassionate counseling. It emphasizes the need for multidisciplinary support and clear communication when managing lethal fetal anomalies.