LETHAL OSTÉOCHONDRODYSPLASIA : foetopathological study of 32 cases

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Vol. 87 No. 2 (2009): Issue Feb 2009

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Ahlem Lahmar-Boufaroua
service d'anatomie et cytologie pathologique. Hôpital Farhat Hached Sousse
Mohamed Tahar Yacoubi
service d'anatomie et cytologie pathologique. Hôpital Farhat Hached Sousse
Sihem Hmisssa
service d'anatomie et cytologie pathologique. Hôpital Farhat Hached Sousse
Mohamed Selmi
service d'anatomie et cytologie pathologique. Hôpital Farhat Hached Sousse
Sadok Korbi
service d'anatomie et cytologie pathologique. Hôpital Farhat Hached Sousse

Abstract

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 foetopathological 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: 8cases 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 .

Keywords:

foetus, bone, osteochondrodysplasia, histology, radiography

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