Related Experiment Video
Updated: Jun 22, 2026
Establishment and Evaluation of a Sheep Model of Full-thickness Osteochondral Defect
Published on: April 14, 2026
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]
Ahlem Lahmar-Boufaroua1, Mohamed Tahar Yacoubi, Sihem Hmisssa
1Service d'anatomie et cytologie pathologique, Hôpital Farhat Hached, Sousse.
Background:
The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism.
Aims:
To describe the malformations and dysmorphic features in lethal osteochondrodysplasias
Methods:
Our study involved 32 cases of lethal fetal Osteochondrodysplasias, collected over a period of 14 years in the pathological department of Sousse.
Results:
Our series consisted of 23 foetuses from a medical termination of pregnancy, 6 newborns and 3 stillbirths. The mean age of mothers was 28 years old, consanguinity was observed in 61%. 3 cases of recurrence of the disease in three families were noted. The bone abnormalities were detected in antenatal ultrasonography in 25 cases (87%) and at birth in 7 cases. Ultrasound showed micromelia in all cases, a narrow chest in 5 cases and spina bifida in 3 cases. The feto-pathological exam, including a macroscopic examination, radiological and histological samples of bone, has allowed us, based on the International Classification of 2001 to classify the 32 cases of Osteochondrodysplasias in: 8 cases of Achondrogenesis type I (type Parenti-Fraccaro), 3 cases of Achondrogenesis type II (Langer Saldino), 9 cases of lethal osteogenesis imperfecta, 8 cases of thanatophoric dysplasia, 4 cases of Schneckenbecken dysplasia, 2 cases of Short rib polydactyly syndrome, Majewski type and 1 case of asphyxiating thoracic dysplasia.
