假氨蝶呤综合征

Pseudoaminopterin syndrome.

作者信息

Verloes A, Bricteux G, Koulischer L

机构信息

Centre for Human Genetics, Liège University, Belgium.

出版信息

Am J Med Genet. 1993 Jun 1;46(4):394-7. doi: 10.1002/ajmg.1320460410.

DOI:10.1002/ajmg.1320460410

PMID:8357010

Abstract

We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental retardation. Three convincing cases of "Aminopterin Syndrome Sine Aminopterin" have been reported (the fourth case possibly having the Juberg-Hayward syndrome). Variability and heterogeneity of cases with apparent aminopterin embryopathy are discussed.

摘要

我们报告了一名男孩，其临床表现组合让人联想到氨甲蝶呤胚胎病：短头畸形伴颅骨缝早闭、颅骨矿化不良、睑裂向上倾斜、颧骨发育不全、高拱腭、小颌畸形、耳廓增厚异常、房间隔缺损、手部轻度异常、生长发育和智力迟缓。已有3例令人信服的“无氨甲蝶呤的氨甲蝶呤综合征”病例报告（第4例可能患有朱伯格 - 海沃德综合征）。本文讨论了明显的氨甲蝶呤胚胎病病例的变异性和异质性。