Prenatal phenotype of Nager syndrome and Rodriguez syndrome: Variable expression of the same entity?

GanaS.; GentilinB.; BianchiV.; GorlaS.; CerianiF.; MelloniG.; LalattaF.

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Prenatal phenotype of Nager syndrome and Rodriguez syndrome: Variable expression of the same entity?

机译：纳格综合征和罗德里格斯综合征的产前表型：同一实体的可变表达？

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The acrofacial dysostoses (AFDs) are a group of conditions characterized by the combination of mandibulofacial dysostosis with variable preaxial and/or postaxial limb abnormalities (Opitz et al., 1993). Although numerous cases of AFD have been reported, their etiologies have only just begun to be elucidated. They have been classified into two major groups according to the type of limb defects: Nager syndrome (NS) (OMIM 154400), characterized by preaxial limb anomalies, and Miller syndrome (OMIM 263750), characterized by postaxial limb anomalies (Opitz et al., 1993). NS is the most common form of AFD, although fewer than 100 cases have been reported (Ansart-Franquet et al., 2009).

机译：肢端发育不良（AFDs）是一组以下颌面发育不良与可变的前轴和/或后轴肢体异常相结合为特征的一组疾病（Opitz et al。，1993）。尽管已经报道了许多AFD病例，但其病因才刚刚被阐明。根据肢体缺陷的类型将其分为两大类：特征为前轴肢体异常的纳格综合征（NS）（OMIM 154400）和特征为轴后肢体异常的Miller综合征（OMIM 263750）（Opitz等。，1993）。 NS是最常见的AFD形式，尽管已报道的病例少于100例（Ansart-Franquet等，2009）。

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《Clinical dysmorphology》 |2013年第4期|共5页
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GanaS.; GentilinB.; BianchiV.; GorlaS.; CerianiF.; MelloniG.; LalattaF.;
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Prenatal phenotype of Nager syndrome and Rodriguez syndrome: Variable expression of the same entity?

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