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具有非典型表现的弗林斯综合征——前额有巨大中线裂隙但头颅磁共振成像结果正常。

Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings.

作者信息

Demirel G, Oguz S S, Celik I H, Yilmaz Y, Uras N, Erdeve O, Dilmen U

机构信息

Zekai Tahir Burak Maternity Teaching Hospital, Neonatology Department, Ankara, Turkey.

出版信息

Genet Couns. 2010;21(4):405-9.

Abstract

We report a newborn with Fryns syndrome and atypical findings like a large midline cleft on forehead. Abnormal findings included congenital left diaphragmatic hernia, prominent forehead, hypertelorism, broad nasal bridge, anteverted nostrils, cleft palate, low set ears, tapered fingers, macrocephaly, congenital heart defect, midline defects and renal anomalies. This is the first case that has a midline cleft on forehead with normal cranial MRI findings.

摘要

我们报告了一名患有弗林斯综合征的新生儿,伴有非典型表现,如前额正中大型裂伤。异常表现包括先天性左膈疝、前额突出、眼距过宽、鼻梁宽、鼻孔前倾、腭裂、低位耳、手指细长、巨头畸形、先天性心脏缺陷、中线缺陷和肾脏异常。这是首例前额有中线裂伤但头颅磁共振成像(MRI)结果正常的病例。

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