Kosi-Santić Kornelija, Rudan Dijana, Buković Damir, Segregur Jadranko, Wagner Jasenka, Oresković Slavko, Zupić Tomislav, Radan Mirjana
Coll Antropol. 2014 Mar;38(1):331-5.
Asymmetric neonatal crying is a rare minor congenital abnormality caused by unilateral agenesis or hypoplasia of depressor anguli oris muscle and depressor labii inferioris muscle. It is either an isolated clinical finding or one of the clinical findings included in several malformation syndromes linked to a microdeletion within a chromosomal region 22q11.2. Some malformations in that region are associated with serious cardiovascular anomalies. Nowadays, standard diagnostic techniques for detecting aberrations within the chromosomal region 22q11.2 are fluorescence in situ hybridization (FISH) and multiplex ligation probe amplification (MLPA). This short report describes an eutrophic female newborn whose both lip corners are symmetrically positioned while at rest; while crying, left lip corner and left half of the lower lip are falling. She also has partial bilateral syndactyly between second and third toe, open foramen ovale and by ultrasound detected hyperechogenic region in the thalamus and brain parenchyme. Aiming to investigate etiopathogenesis of the newborn asymmetric crying and accompanying minor abnormalities, we have tried to verify or exclude: microdeletion syndrome, TORCH infection and birth injury. Recognising such a paresis soon after the delivery is of great importance and can be helpful in detecting other accompanying anomalies, especially cardiovascular anomalies.
不对称性新生儿啼哭是一种罕见的轻度先天性异常,由单侧口角降肌和下唇降肌发育不全或发育不良引起。它既可以是一种孤立的临床发现,也可以是与22q11.2染色体区域微缺失相关的几种畸形综合征所包含的临床发现之一。该区域的一些畸形与严重的心血管异常有关。如今,检测22q11.2染色体区域畸变的标准诊断技术是荧光原位杂交(FISH)和多重连接探针扩增(MLPA)。本简短报告描述了一名营养良好的女新生儿,其静止时双侧口角位置对称;哭闹时,左侧口角和左侧下唇下垂。她还存在第二和第三趾间部分双侧并指、卵圆孔未闭,超声检查发现丘脑和脑实质内有高回声区。为了探究该新生儿不对称啼哭及伴随的轻微异常的病因,我们试图验证或排除:微缺失综合征、TORCH感染和产伤。分娩后尽早识别这种麻痹非常重要,有助于发现其他伴随异常,尤其是心血管异常。