Title: Diagnostic Antenatal De Nanisme Thanatophore Type I : A Propos D'un Cas Et Revues De La Littérature
Authors: E.Ahmedna, B.Omnia ,N.Douzi , B.I.Majda , N.Mamouni , S. Errarhay, C.Bouchikhi, A.Banani.
Volume: 9
Issue: 2
Pages: 100-102
Publication Date: 2025/02/28
Abstract:
Thanatophoric dwarfism is a severe form of lethal skeletal dysplasia, characterized by significant morphological abnormalities and thoracic insufficiency, leading to an inability to survive after birth. Prenatal diagnosis is based on ultrasound imaging, which reveals characteristic signs such as severe limb shortening, macrocephaly, and a narrow thorax. This article presents a case of thanatophoric dwarfism diagnosed during a routine second-trimester ultrasound. The clinical, ultrasound, and genetic aspects are discussed, emphasizing the importance of early diagnosis for appropriate management and genetic counseling.