Abstract
THANATOPHORIC DYSPLASIA (INDIVIDUAL CASE REVIEW)
*Dr. Elkoummi Jihad, Dr. Youssouf Nabila, Dr. Antaky Redouane, Pr. Fichtali Karima and Pr. Bouhya Said
ABSTRACT
Thanatophoric dysplasia (TD) is a lethal morphological anomaly secondary to a rare osteochondrodysplasia. Prenatal screening is based on obstetrical ultrasound while confirmation is obtained by molecular biology which identifies the mutation of the FGFR3 gene (fibroblast growth factor receptor 3) located on the short arm of chromosome 4. We present the case of a 32-year-old woman, second gestational age, poorly followed, with gestational diabetes, whose third trimester ultrasound revealed fetal malformations suggestive of DT. It was a facial dysmorphia with micrognathia associated with an extremely shortened aspect of the limbs. The delivery was performed by caesarean section allowing the extraction of a dwarf baby of 34 cm in length and 1700 g in weight, who died 30 minutes after birth.
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