Akcakus M, Ozkul Y, Gunes T, Kurtoglu S, Cetin N, Kisaarslan A P, Dundar M
Department of Pediatrics, Division of Neonatology, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
Genet Couns. 2003;14(3):325-30.
Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies. A large number of asymmetric crying facies cases with chromosome 22q11 microdeletions have presently been reported. Fluorescence in situ hybridization (FISH) analysis for 22q11 deletion was performed on 8 infants with asymmetric crying facies. Five of our patients had at least one associated systemic anomaly. Two of 5 patients had conotruncal heart disease (Cayler cardiofacial syndrome). In three of the affected infants, we failed to reveal additional congenital malformation. The 22q11 deletion was present in only one patient. This baby had congenital hypoparathyroidism, severe neonatal hypocalcaemia and tetralogy of Fallot. We suggest, a 22q11 deletion should be excluded not in all cases but in cases with Cayler cardiofacial syndrome and in ACF associated with additional congenital anomalies.
先天性不对称哭脸综合征是一种因单侧口降肌缺失或发育不全导致的轻度先天性异常，有时与严重先天性异常相关。目前已报道大量伴有22q11微缺失的不对称哭脸综合征病例。对8例不对称哭脸综合征婴儿进行了22q11缺失的荧光原位杂交（FISH）分析。我们的5例患者至少有一种相关的全身异常。5例患者中有2例患有圆锥动脉干型心脏病（凯勒心面综合征）。在3例受影响婴儿中，未发现其他先天性畸形。仅1例患者存在22q11缺失。该婴儿患有先天性甲状旁腺功能减退、严重新生儿低钙血症和法洛四联症。我们建议，并非在所有病例中都应排除22q11缺失，而是在患有凯勒心面综合征以及与其他先天性异常相关的不对称哭脸综合征病例中应予以排除。
