|
|
| |
| Diagnostic anténatal de la Dysplasie Thanatophore : A propos de deux cas et revue de la littérature.
Download PDF
|
Chaymae Chemlal, Saloua Tanouti, Hafsa Taheri, Hanane Saadi, Ahmed Mimouni
|
Abstract:
Introduction: Thanatophoric dysplasia (DT) or thanatophore nanism is the most common lethal morphological anomaly, caused by a mutation of the FGFR3 gene (fibroblast growth factor receptor 3) located on the short arm of chromosome 4. It is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. The definitive diagnosis uses molecular biology, but medical imaging must be in the first line in early antenatal screening. Clinical subjects : We report two cases of thanatophoric dysplasia type 1 and type 2 diagnosed antenatally on ultrasound scan in the 33 weeks of amenorrhea and the 22 SA respectively : TD type II (TD2) is characterized by polyhydramnios , short limbs, a narrow thoracic cage, straight femora , a cloverleaf skull and brain anomalies whereas TD type I (TD1) is characterized by short limbs, a narrow thoracic cage and curved femora without a cloverleaf skull. In the fact that the termination of pregnancy is the ban in moroccan law , we supervised the progression of the two pregnancies until delivery ,the foetals died in the perinatal period due to severe respiratory insufficiency. The aim is to highlight the diagnostic features of this rare fetal abnormality with a brief review of the literature. Conclusion: In the absence of molecular biology, obstetric ultrasound, sometimes coupled with radiography of the uterus and its contents, makes it possible to diagnose the TD and to eliminate other types of osteochondrodysplasia.
|
|
|
| | |