Karaagac Aysu Turkmen, Yildirim Ayse Inci
Department of Pediatrics, Kartal Kosuyolu Training and Research Hospital, Istanbul, Turkey.
Department of Pediatric Cardiology, Kartal Kosuyolu Training and Research Hospital, Istanbul, Turkey.
North Clin Istanb. 2015 Jan 24;1(3):182-186. doi: 10.14744/nci.2014.04695. eCollection 2014.
Velocardiofacial syndrome (VCFS), also known as "Shprintzen syndrome" or "22q11.2 deletion syndrome" is an autosomal dominant genetic disorder with a wide range of phenotypical findings. It is majorly characterized by cleft palate, dysmorphic face, conotruncal cardiac anomalies, growth retardation, neurologic disorders and learning disabilities. Our case was the first child of her family and she had a cleft palate, dysmorphic face, tetralogy of Fallot (TOF), growth retardation and a mild neuromotor developmental delay. It is important to recognize this syndrome and inform the family about the probable future health problems of their babies as early as possible. Genetic counselling is crucial for the subsequent pregnancies. Therefore, we wanted to review the literature about the differential diagnosis and genetics of velocardiofacial anomalies.
腭心面综合征（VCFS），也被称为“施普林曾综合征”或“22q11.2缺失综合征”，是一种常染色体显性遗传病，具有广泛的表型表现。其主要特征为腭裂、面部畸形、圆锥动脉干心脏异常、生长发育迟缓、神经障碍和学习障碍。我们的病例是其家族中的第一个孩子，她患有腭裂、面部畸形、法洛四联症（TOF）、生长发育迟缓以及轻度神经运动发育迟缓。认识到这种综合征并尽早告知家庭其婴儿未来可能出现的健康问题非常重要。遗传咨询对于后续妊娠至关重要。因此，我们希望回顾有关腭心面异常的鉴别诊断和遗传学的文献。
