A PRETERM INFANT WITH PROLONGED RESPIRATORY PROBLEMS DUE TO RITSCHER-SCHINZEL SYNDROME

被引：0

作者：

Yurttutan, S. ^{[1
]}

Oncel, M. Y.

Yurttutan, N. ^{[2
]}

Altug, N. ^{[3
]}

Erdeve, O.

Dilmen, U. ^{[4
]}

机构：

[1] Zekai Tahir Burak Matern Teaching Hosp, Neonatal Intens Care Unit, Dept Neonatol, TR-06110 Ankara, Turkey

[2] Elmadag State Hosp, Div Radiol, Ankara, Turkey

[3] Zekai Tahir Burak Matern Teaching Hosp, Div Pediat Cardiol, TR-06110 Ankara, Turkey

[4] Yildirim Beyazit Univ Hosp, Dept Pediat, Ankara, Turkey

来源：

GENETIC COUNSELING | 2012年 / 23卷 / 03期

关键词：

Ritscher-Schinzel syndrome; Pulmonary hypertension; Respiratory problems; CARDIAC 3C SYNDROME; PHENOTYPE;

D O I：

暂无

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome: Ritscher-Schinzel also known as cranio-cerebello-cardiac (3C) syndrome is a very rare clinical entity. The striking features of this syndrome are cerebellar, cardiac and craniofacial abnormalities. Life threatening features of this syndrome are generally associated with cardiac abnormalities. We here present prolonged respiratory problems due to pulmonary hypertension in a preterm baby with Ritscher-Schinzel syndrome.

引用

页码：383 / 387

页数：5

共 12 条

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