Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency. © 2001 Wiley Liss, Inc.

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 2001-01, Vol.98 (2), p.117-120
Hauptverfasser:	Makrydimas, George, Souka, Athena, Skentou, Hara, Lolis, Dimitrios, Nicolaides, Kypros
Format:	Artikel
Sprache:	eng
Schlagworte:	10 to 14 week scan Adult Biological and medical sciences Bone and Bones - abnormalities Bone and Bones - diagnostic imaging Bone and Bones - embryology Diseases of the osteoarticular system Female Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Neck - diagnostic imaging nuchal translucency osteogenesis imperfecta Osteogenesis Imperfecta - classification Osteogenesis Imperfecta - diagnostic imaging Pregnancy Pregnancy Trimester, First prenatal diagnosis Radiography skeletal dysplasias Ultrasonography, Prenatal
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Beschreibung
Zusammenfassung:	We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency. © 2001 Wiley Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/1096-8628(20010115)98:2<117::AID-AJMG1018>3.0.CO;2-R