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Prenatal diagnosis of metatropic dwarfism |
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| Authors: | S Manouvrier-Hanu L Devisme M C Zelasko Ph Bourgeot C Vincent-Delorme A S Valat-Rigot F Puech J P Farriaux |
| Institution: | 1. Laboratoire d'Anatomopathologie, Hǒpital Calmette, 59037 Lille Cédex, France;2. Maternité du Centre Hospitalier, 59047 Cambrai Cédex, France;3. Service de Médecine fœtale Maternité, Salengro, 59037 Lille Cédex, France;4. Service de Pédiatrie et Génétique Médicale, Hǒpital Huriez, 59037 Lille Cédex, France |
| Abstract: | We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic ‘dumb-bell’ appearance of the long bones. |
| Keywords: | lethal chondrodysplasia metatropic dysplasia prenatal diagnosis |