一例与18三体综合征相关的新生儿左心室心肌致密化不全病例。
A neonatal case of left ventricular noncompaction associated with trisomy 18.
作者信息
Beken S, Cevik A, Turan O, Hirfanoğlu I M, Unal S, Altuntaş N, Pektas A, Türkyilmaz C, Tunaoğlu S
机构信息
Department of Neonatology, Gazi University Hospital, Ankara, Turkey.
出版信息
Genet Couns. 2011;22(2):161-4.
A neonatal case of left ventricular non-compaction associated with trisomy 18: Left ventricular noncompaction (LVNC) is a rare congenital cardiomyopathy and exact etiology is still unknown. Trisomy 18 is the second most common autosomal trisomy in live-born infants. LVNC has been described in association with other dysmorphic features, association with trisomy 18 has not been reported previously in a neonate. LVNC broadens the cardiac anomalies associated with trisomy 18.
1例与18三体综合征相关的新生儿左心室心肌致密化不全：左心室心肌致密化不全（LVNC）是一种罕见的先天性心肌病，确切病因尚不清楚。18三体综合征是活产婴儿中第二常见的常染色体三体异常。LVNC已被描述与其他畸形特征相关，此前尚未有新生儿LVNC与18三体综合征相关的报道。LVNC扩展了与18三体综合征相关的心脏异常范围。
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