[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases].
BACKGROUND
The lethal osteochondrodysplasias are rare, their prevalence is estimated at 1 per 10 000 births. Mostly have genetic determinism.


OBJECTIVE
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.
Lahmar-Boufaroua
Ahlem
A
Service d'anatomie et cytologie pathologique, Hôpital Farhat Hached, Sousse.
Yacoubi
Mohamed Tahar
MT
Hmisssa
Sihem
S
Selmi
Mohamed
M
Korbi
Sadok
S
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D000029:Abortion, Legal / Q000706:statistics & numerical data; D000328:Adult; D001344:Autopsy; D003241:Consanguinity; D005260:Female; D005315:Fetal Diseases / Q000473:pathology; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000401:mortality / Q000473:pathology*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D012189:Retrospective Studies; D016135:Spinal Dysraphism / Q000473:pathology; D050497:Stillbirth; D013909:Thorax / Q000002:abnormalities; D014416:Tunisia / Q000453:epidemiology; D016216:Ultrasonography, Prenatal