Cleft palate, brachygnathia inferior, and mandibular oligodontia in a Holstein calf

A case of cleft palate, brachygnathia inferior and mandibular oligodontia is described in a calf. Otitis media may be a complication of cleft palate in the calf as it is in man. Cleft palate in the calf may be further classified into at least 4 major groups and some of the cases might be suitable models for a study of cleft palate in man.     

A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis.

A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip/palate is discussed in relation to genetic counselling and recurrent risk estimates.     

武汉地区167例先天性唇腭裂临床分析

目的探讨先天性唇腭裂的临床流行病学特征,了解先天性唇腭裂的发病情况,为先天性唇腭裂的深入研究提供数据。方法对我院2008年1月至2013年6月在我院引产及分娩的先天性唇腭裂畸形儿病例进行回顾性分析,并进行统计学处理。结果单纯唇裂、唇裂合并腭裂性别、单双侧比较差异有统计学意义。唇腭裂左右侧比较无统计学意义。唇腭裂城乡分布无统计学意义。唇腭裂家族发病亲缘关系、三种类型比较,差异均无统计学意义。唇腭裂伴发畸形性别比较无统计学意义。结论唇裂合并腭裂最常见。唇腭裂各类型中除单纯腭裂外男性多于女性,单侧多于双侧。唇腭裂家族发病情况与亲缘关系的远近无关。唇腭裂伴发畸形无性别差异。     

Potentiation of chemically induced cleft palate by ethanol ingestion during gestation in the mouse

The influence of ethanol consumption on cleft palate induction by methylmercury, cortisone, and retinyl acetate was investigated in Swiss white mice. Consumption of 20% ethanol throughout gestation significantly increased the incidence of cleft palate compared to water-fed mice, when methylmercury was given on four consecutive days (days 9-12, 5 mg/kg of body weight). Ethanol also increased the incidence of cleft palate in mice given retinyl acetate (3,400 or 5,100 IU) on day 12, compared to retinol acetate-treated mice given water, but did not affect cleft palate induction by cortisone (2.5 mg/d, days 8-11). Ethanol significantly reduced fetal weight in the presence or absence of the three teratogens, but the results do not support a hypothesis that growth retardation is directly responsible for the potentiating action of ethanol. It may be that ethanol acts to increase cleft palate induction by some teratogens by retarding fetal developmental processes.     

Epidemiology of orofacial clefts in a Danish county over 35 years – Before and after implementation of a prenatal screening programme for congenital anomalies

In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women.The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County. The registry is based on multiple data sources and includes information about live births, fetal deaths with a gestational age >20 weeks and terminations of pregnancy after prenatal diagnosis of severe fetal anomaly. The study included all fetuses/infants out of a population of 182,907 births diagnosed with orofacial clefts born between 1980 and 2014. There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for cleft palate. There were no significant changes in prevalence over time for the two anomalies, calculated with and without inclusion of genetic and chromosomal cases. Overall 66 cases were diagnosed prenatally (17% of total). For isolated cleft lip with or without cleft palate none of the 157 cases born before 2005 were diagnosed prenatally compared to 34 of 58 cases (59%) born in 2005–2014 (p?<?0.01). The proportion of liveborn infants with multiple congenital anomalies also changed after 2005 with 15% (39/266) of all liveborn infants with orofacial clefts born 1980–2004 having multiple anomalies compared to 7% (7/96) in 2005–2014 (p?<?0.05).The implementation of the new screening programme in 2005 has given a major change in prenatal detection rate and reduced the proportion of liveborn infants with orofacial clefts classified as multiple congenital anomaly cases. The prevalence of cleft lip with or without cleft palate was higher than reported from many other countries.     

Collagen XI sequence variations in nonsyndromic cleft palate,Robin sequence and micrognathia

Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. We therefore analyzed a cohort of 24 patients with nonsyndromic Robin sequence, 17 with nonsyndromic cleft palate and 21 with nonsyndromic micrognathia for mutations in COL11A2. A total of 23 Robin sequence patients were also analyzed for mutations in COL2A1 and COL11A1. We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1. Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.     

实时三维超声产前诊断胎儿典型面裂畸形的临床意义

目的探讨实时三维超声产前诊断胎儿面裂畸形的临床意义,寻求提高胎儿唇腭裂诊断准确性的有效方法。方法应用实时三维超声产前对面裂畸形;唇腭裂胎儿和正常胎儿唇腭部位的二维进行对照。结果 10例正常胎儿面部显示率100%,上牙槽突显示率100%,硬腭显示率70%(7/10)。10例唇腭裂胎儿包括7例单纯唇裂,2例上唇裂合并硬腭裂和1例唇裂合并软腭裂。实时三维诊断了所有7例单纯唇裂,诊断率100%;诊断了单侧唇裂合并腭裂1例,有1例单侧唇裂合并腭裂仅诊断了唇裂而漏诊了腭裂,诊断率70%(7/10),另外1例唇裂合并软腭裂仅诊断了唇裂而漏诊了软腭裂。结论实时三维超声产前诊断对胎儿唇裂,尤其是唇裂合并牙槽突及硬腭裂的诊断具有较大的应用价值,但是对胎儿未合并牙槽突裂的软腭裂及部分硬腭裂做出诊断,仍具有很大的难度。     

Cleft lip and palate, lower lip pits, and limb deficiency defects.

Cleft lip or palate and lower lip pits are typical features of the autosomal dominantly inherited Van der Woude syndrome. Limb defects have not been reported in this syndrome so far. A girl with a unilateral complete cleft lip and palate, bilateral lower lip pits, and amniotic deformities of all four limbs is reported and the possibility of chance occurrence of cleft lip and palate, lower lip pits, and limb defects is discussed.     

Cleft lip and palate incidence among the live births in the Republic of Korea

We present an epidemiologic study of cleft lip and palate in the Republic of Korea from January 1, 1993 through December 31, 1993. In 1993, the number of total live births was 715,817. And from 1993 through 1995, a total of 1,293 new patients with cleft lip and palate who were born in 1993 were identified. The incidence of cleft lip and palate was 1.81 per 1000, that is, 1 per 554 live births. The cleft lip: cleft lip and palate: cleft palate alone ratio was 1.13:1:1.19. The male: female ratio was 2.1:1 in the cleft lip group, and 2.5:1 in the cleft lip and palate group. We could detect a male predominance in both groups. In contrast, the ratio was 0.95:1 in the cleft palate group. The left: right: bilateral ratio was 1.9:1:0.23 in cleft lip group, and the ratio was 2.2:1:1.1 in the cleft lip and palate group. This is the first nation-wide study to provide detailed data on the incidence of cleft lip and palate in the live births in the Republic of Korea.     

Comparative teratogenicity of triamcinolone acetonide, triamcinolone, and cortisol in the rat

Pregnant rats were injected im with 0.5 mg/kg triamcinolone acetonide (TAC) on day 12, 13, or 14 of gestation and the fetuses were examined for cleft palate on day 20. All three TAC-treated groups showed an increased proportion of fetuses with cleft palate compared to an untreated control group. Only the group treated on day 13 showed a significant increase in the proportion of litters affected. This indicates that day 13 of gestation is the most sensitive day for cleft palate induction by TAC in the rat. Pregnant rats were then treated on day 13 of gestation with either TAC, triamcinolone (TA), or cortisol. TAC was 59 times as potent as TA in inducing cleft palate, with ED50 values of 1.1 mg/kg and 65 mg/kg respectively. Cortisol induced a significant increase in cleft palates at 500 mg/kg, but the efficacy of this compound was too low to calculate an ED50 and relative teratogenic potency value. Other developmental abnormalities including umbilical hernias, resorption, and fetal death resulted from TAC treatment. Fetal growth retardation was produced by all three compounds. The rank order of teratogenic potency was determined to be TAC greater than TA greater than cortisol.     

Facial clefting in an Arab town in Israel

To study the prevalence of cleft palate and cleft lip with or without cleft palate in an Israeli Arab town, questionnaires were sent to the parents of 1375 pupils in grades 1 and 2 in all seven primary schools in the town of Taibe, and 1281 responded. The information requested included data about siblings and members of the parental generation to give a total of 16 174, and the presence of consanguinity and history of exposure to medication, radiation, smoking or alcohol during pregnancy. There were four affected individuals among the index cases, of whom two had cleft palate only and two cleft lip with cleft palate, giving prevalence rates for each of these of 1.56/1000. Adding to these the number of affected siblings gave a total of 10 affected individuals; two with cleft palate only (0.39/1000) and eight with cleft lip with or without cleft palate (1.56/1000). Among the parental generation, of 16 reported affected individuals, two had cleft palate only (0.18/1000) and 14 cleft lip with or without cleft palate (1.26/1000). The overall prevalence rate for all 26 affected individuals was 1.6/1000; four of these had cleft palate only (0.24/1000) and 22 had cleft lip with or without cleft palate (1.36/1000). There were no cases whose mothers had been exposed to medication, radiation, smoking or alcohol during pregnancy. The effect of consanguinity was not significant (P < 0.92). This study shows that the prevalence of facial clefting in an Israeli Arab community is consistent with that in the general population worldwide.     

Bilateral cleft lip, jaw, and palate in a female Holstein calf

A female Holstein calf with a body weight of 35?kg was born alive after a normal pregnancy period in September 2010 at a commercial dairy farm in Karaj, Iran. At birth, the cleft lip, jaw, and palate were obvious. The cleft was approximately 8.4?cm in length and 7.2?cm in width at the widest part. Pulse rate, respiration rate, and body temperature of the calf were 112/min, 42/min, and 38°C, respectively. Respiration was abdominal and irregular. Necropsy revealed that there was no more congenital abnormality except for the facial defect. Radiologic examination revealed that the cleft extended from the median lip to the rostral part of the palate, which made the dorsal nose and the palate separate. Based on examination of the craniofacial skeletal in detail following maceration, it was revealed that all the facial bones were developed and the defect was just limited to cleft lip, jaw, and palate, which was resulted from failure of closure in facial processes. Accordingly, abnormality was diagnosed as bilateral cleft lip, jaw, and palate.     

HLA Phenotype Frequencies in Individuals with Cleft Lip and/or Cleft Palate

The HLA types of 133 patients with cleft lip and/or cleft palate were determined. Caucasian patients with isolated cleft palate showed a possible association with HLA. Ten of 11 male patients had HLA--A2 as compared to one out of eight female patients (P less than 0.005). Caucasian males with cleft lip and cleft palate had a slight increased frequency of HLA--Aw24 (P = 0.07) and Mexican-American males with cleft lip and/or cleft palate showed an increase of antigen HLA-A28 (P = 0.07), though neither were statistically significant. Females with cleft lip and/or cleft palate from either racial group had no differences from the controls. The serum from 90 mothers of patients with cleft lip and/or cleft palate were reacted against their child's lymphocytes. Of these crossmatch tests, 12% were found to be positive. These preliminary results suggest that male patients with isolated cleft palate are worthy of further studies with respect of HLA associations.     

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature

A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.     

Cleft palate susceptibility maps in two H-2 subregions, H-2K to I-B and G to H-2D

Data presented here defines the map of H-2 associated genes which affect the glucocorticoid-induced cleft palate frequency to the regions H-2K to I-B and G to H-2D. This was done by observing in four congenic strains the frequency of cleft palate induced by 160 mg/kg of dexamethasone administered to pregnant females on day 12 of gestation. The strains used were B10.A/Sg.Sn, C57BL/10Sn, B10.A (5R)/SgSn and B10.A(18R)/Sg. Additionally the cleft palate frequency was observed in a large number of litters from saline-treated pregnant females. The cleft palate frequency in this control was very low and the rank of strains was the same as for the glucocorticoid-induced cleft-palate frequency. This observation suggests that the induced cleft palate frequency reflects the spontaneous occurrence of isolated cleft palate in these strains.     

Segregation of HLA in families with oral clefts: Evidence against linkage between isolated cleft palate and HLA

In an earlier study of amilies with two or more sibs affected with a cleft of the lip with or without clefts of the palate, we found no evidence for close linkage of HLA with this malformation. In the present study, we confime our attention to isolated cleft palate, an entity that is genetically distinct from clet palate associated with cleft lip. In 15 sibships with two or more effected sibs, cleft palate, and parental HLA haplotypes assorted independently in the affected sibs, providing evidence against close linkage of this phenotype.     

A family study of isolated cleft palate.

A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117 grandchildren of whom one was affected, and 517 nephews and nieces of whom one was affected. This is the largest series yet available on which to base an estimate of the risks to children of patients with non-syndromic cleft palate. The risk is probably increased where a parent or sib of the proband is affected and increased to a lesser degree where a second or third degree relative is affected. The family patterns in these and other studies suggest that the aetiology of cleft palate is heterogeneous, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model.     

软腭后推结合带蒂颊脂垫转移修复腭裂的临床应用

目的:探讨软腭后推结合带蒂颊脂垫转移修复腭裂的效果。方法:对裂隙较大或复裂病例采用软腭后推术后,遗留的腭前部创面用带蒂颊脂垫的颊突及体部转移覆盖,碘纺纱条打包固定,术后预防感染处理。结果:5例病人,术后颊脂垫完全成活,无复裂,无颊间隙感染。随访3～6月无复裂,发音改善。结论:颊脂垫血供丰富,带蒂转移结合软腭后推可修复裂隙较大的腭裂或复裂后局部可利用组织较少的腭裂。