Prenatal diagnosis of kyphomelic dysplasia |
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| Authors: | A Guala E Biroli P Bassini G Botta D Licata G Di Cara D Franceschini P Franceschini |
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| Institution: | 1. Ambulatori di Genetica, Borgosesia e Vercelli, ASL 11, Italy;2. Divisione di Ostetricia, Ospedale S. Andrea, Vercelli, ASL 11, Italy;3. OIRM – S. Anna, Servizio di Anatomia e Istologia Patologica, Torino, Italy;4. Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Turin, Italy |
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| Abstract: | Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. Mental development is generally normal. We report the in utero ultrasound appearances and post-mortem radiographic findings of a 22-week-old male fetus suggestive of KD. A review of 19 previously reported patients with KD is also presented. Copyright © 2001 John Wiley & Sons, Ltd. |
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| Keywords: | kyphomelic dysplasia bone displasia ultrasound prenatal diagnosis |
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