Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare...

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Veröffentlicht in:	Genetics in medicine 2009-02, Vol.11 (2), p.127-133
Hauptverfasser:	Krakow, Deborah, Lachman, Ralph S., Rimoin, David L.
Format:	Artikel
Sprache:	eng
Schlagworte:	acmg-practice-guidelines Animals Biomedical and Life Sciences Biomedicine Fetus - abnormalities Human Genetics Humans Laboratory Medicine Musculoskeletal Abnormalities - diagnosis Musculoskeletal Abnormalities - diagnostic imaging osteochondrodysplasias Osteochondrodysplasias - diagnosis Osteochondrodysplasias - diagnostic imaging Practice Guidelines as Topic prenatal diagnosis Prenatal Diagnosis - standards skeletal dysplasias Ultrasonography, Prenatal ultrasound
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