Yazdee Alireza Karimee, Saedi Babak, Sazegar Amir Arvin, Mehdipour Parvin
Department of Otolaryngology, School of Medicine, Tehran University of Medical Sciences, Iran.
Acta Med Iran. 2011;49(1):54-8.
Orofacial clefts, including cleft lip with or without cleft palate (CL (P)), are common congenital malformations, second only to clubfoot in frequency of occurrence. The epidemiology and genetics of this disorder have been studied extensively in various countries by several investigators. The objective of this study is to assess the epidemiology and some genetic aspects of orofacial clefting at Imam Khomeini Hospital in Tehran. This study was a 7-year case series (retrospective) study from 1999 to 2006. The setting for the study was Imam Khomeini Hospital in Tehran, and the participants were all consecutive surgical cases with orofacial clefts referred to this hospital. One hundred and 77 cases of cleft lip and/or cleft palate were recorded during these 7 years. Seventy four of them (41.8%) were female and 103(58.2%) were male (M/F Ratio=1.39). Of all patients, 40 persons (22.6%) had isolated CP, 45 (25.4%) had cleft lip without cleft palate, and 92 (52%) had cleft lip with cleft palate (CL+P). Their M/F ratios were 1.66, 0.6 and 1.96 respectively. Of all CL (P) probands, 41 patients (29.9%) were bilaterally affected. In unilateral cases, the left side was affected nearly twice as frequently as the right side. Among the patients, 23 cases (13%) had other malformations; most commonly head and face abnormalities and then congenital heart disease. Fifty-four patients (30.5%) had consanguine parents; 33 (18.6%) were first cousins, 7 (4%) were second cousins, and 14 (7.9%) were distant relatives. There was a positive family history for cleft syndrome in 23 cases; most commonly CL-P. Our study reveals that the epidemiologic aspects of oral clefts in Iran are very similar to other Caucasian populations. It also suggests that a routine screening such as echocardiography and ruling out skeletal, hearing and visual problems may be necessary in cleft patients especially in children. It seems that genetic counseling and karyotyping can be very useful in patients with multiple malformations.
口面部裂隙,包括唇裂伴或不伴腭裂(CL(P)),是常见的先天性畸形,其发生率仅次于马蹄内翻足。该疾病的流行病学和遗传学已被多个国家的数名研究人员广泛研究。本研究的目的是评估德黑兰伊玛目霍梅尼医院口面部裂隙的流行病学及一些遗传学方面。本研究是一项从1999年至2006年的7年病例系列(回顾性)研究。研究地点为德黑兰的伊玛目霍梅尼医院,参与者为所有转诊至该医院的连续性口面部裂隙手术病例。在这7年中记录了177例唇裂和/或腭裂病例。其中74例(41.8%)为女性,103例(58.2%)为男性(男/女比例 = 1.39)。在所有患者中,40人(22.6%)患有单纯腭裂,45人(25.4%)患有唇裂不伴腭裂,92人(52%)患有唇裂伴腭裂(CL+P)。它们的男/女比例分别为1.66、0.6和1.96。在所有CL(P)先证者中,41例患者(29.9%)双侧受累。在单侧病例中,左侧受累的频率几乎是右侧的两倍。在患者中,23例(13%)有其他畸形;最常见的是头面部异常,其次是先天性心脏病。54例患者(30.5%)的父母为近亲;33例(18.6%)是第一代堂/表亲,7例(4%)是第二代堂/表亲,14例(7.9%)是远亲。23例有唇裂综合征的家族史;最常见的是CL-P。我们的研究表明,伊朗口腔裂隙的流行病学特征与其他高加索人群非常相似。这也表明,对于腭裂患者尤其是儿童,可能有必要进行常规筛查,如超声心动图检查以及排除骨骼、听力和视力问题。对于有多种畸形的患者,遗传咨询和染色体核型分析似乎非常有用。