Caksen H, Odabaş D, Tuncer O, Kirimi E, Tombul T, Ikbal M, Ataş B, Ari Yuca S
Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey.
Genet Couns. 2004;15(2):159-65.
A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.
35例不对称哭泣面容病例回顾:先天性不对称哭泣面容(ACF)由一侧口角降肌(DAOM)先天性发育不全或缺失引起。众所周知,这种异常常与心血管、头颈部、肌肉骨骼、呼吸、胃肠道、中枢神经系统及泌尿生殖系统异常相关。在本文中,我们报告了35例ACF患者(28名儿童和7名成人),其中16例(即45%)发现了其他异常。这些异常包括脑和小脑萎缩、枕大池蛛网膜囊肿、精神运动发育迟缓、惊厥、胼胝体发育不全、颅骨缺损、皮样囊肿、隐性脊柱裂、眼距增宽、小颌畸形、下颌后缩、下唇血管瘤、系带过短、腭裂、低位耳、耳前赘生物、轻度面部发育不全、胸骨裂、先天性心脏病、肾发育不全、膀胱输尿管反流、肥厚性骨关节病、先天性关节挛缩、先天性髋关节脱位、多指畸形以及脐疝和腹股沟疝。除此之外,1名婴儿的母亲患有糖尿病,该婴儿患有房间隔缺损,另外4名儿童分别患有4p缺失、克兰费尔特综合征、孤立性CD4缺乏症以及类似特雷彻 - 柯林斯综合征的面容。尽管许多这些异常已被报道与ACF相关,但小脑萎缩、胸骨裂、颅骨缺损、糖尿病母亲的婴儿、4p缺失、克兰费尔特综合征、孤立性CD4缺乏症以及类似特雷彻 - 柯林斯综合征的面容此前尚未见报道。