Congenital lower lip pits (Van der Woude syndrome): report of a case

Van der Woude syndrome (VWS) is a rare autosomal dominant disorder that is characterized by a cleft lip and palate with congenital lip pits. This is a report of a case of VWS with sinuses in the lower lip, a cleft in the upper lip, and a supernumerary tooth in the maxilla. The main characteristics of this disorder are discussed. Dental treatment of the patient was performed, but the surgical removal of the sinus was rejected by the parents. This case report brings this condition to the attention of dentists and surgeons and emphasizes lip pits may not always be identical in appearance.     

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment

Congenital pits of the lower lip constitute a rare developmental malformation, transmitted by an autosomal dominant mode, with considerable heterogeneity as regards the expression of the disorder. They are present in van der Woude syndrome (VWS), in which clefts of the upper lip and/or palate are often observed. Literature related to the various parameters associated with and relevant to the disorder is extensive. The purpose of this review is to cover, synthesize and categorize the existing knowledge into distinct entities, in order to facilitate understanding of the aetiopathogenesis of the malformation, its clinical manifestations and histological features, the epidemiology of the syndromic situation and the fundamental approach to an integral differential diagnosis. Special emphasis is given to the rationale underlying the treatment modalities that have been suggested, and the necessity for appropriate genetic counselling, as the disorder shows a high affinity with clefts and a familial type of occurrence.     

青少年唇腭裂患者焦虑症及影响因素的研究

目的 探讨青少年唇腭裂患者焦虑症的发生情况及影响因素。方法 选取120例青少年唇腭裂患者作为研究对象,采用一般人口学问卷、焦虑自评量表、社会支持评定量表（SSRS）进行问卷调查,分析各因素对焦虑症发生的影响。结果 回收有效问卷119份。青少年唇腭裂患者焦虑症的发生率为49.6%（59/119）,其中轻度、中度、重度焦虑症发生率分别为41.2%（49/119）、7.6%（9/119）、0.8%（1/119）。不同的性别、居住地区、疾病类别、是否独生子女,其焦虑症的发生率有统计学差异（P<0.05）。焦虑症患者SSRS得分低于无焦虑症患者（P<0.05）。社会支持与性别对患者焦虑症的发生有预测作用（R=0.318）。结论 青少年唇腭裂患者焦虑症发病率较高,性别与社会支持是其重要的影响因素,应针对好发人群早期进行心理干预。     

Van der Woude syndrome in twins

This article discusses monozygotic twin patients with Van der Woude syndrome, the most common form of syndromic cleft lip and palate, who have concordant manifestations. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with clinical features, including lower lip sinuses with a cleft lip, cleft palate, or both. Some mutations have been found to cause this disorder. Genetic counseling and informing patients about inheritance is crucial. The appearance, etiology, genetic aspects, differential diagnosis, and treatment modalities are discussed. To the authors' knowledge, this is the third report of monozygotic concordant twins with this syndrome in the literature.     

Popliteal pterygium syndrome: orofacial and general features

This report describes the case of a 13-year-old Indian boy with popliteal pterygium syndrome. The popliteal pterygium syndrome is an extremely rare hereditary disorder thought to occur with an incidence of approximately 1 in 300000 live births. It is a congenital malformation syndrome affecting the face, limbs, and genitalia with highly characteristic features, including popliteal webbing, cleft palate (with or without cleft lip), lower lip pits, syndactyly, and genital and nail anomalies. This patient was referred to our department because of complaints of pain in the mouth and poor oral health. The orofacial findings included cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. In this syndrome, the orodental problems are overshadowed by the major syndromic manifestations but nevertheless need appropriate management. These patients have special dental needs and early diagnosis of the affected children is therefore important in order to initiate preventive dental care and carry out appropriate dental treatment at the optimal time.     

Major hematological diseases associated with cleft lip and palate.

OBJECTIVE: Cleft lip and palate is among the most common congenital anomalies. Its association with major blood disorders has rarely been reported. The purpose of this study was to report two patients who had major blood diseases associated with cleft lip and palate. PATIENTS AND RESULTS: From June 1995 to December 1997, there were 2700 patients with cleft lip, cleft palate, or both who received treatment at Chang Gung Memorial Hospital. Two of them were found to have major hematological disorders. In both cases, the disorder was detected by preoperative blood cell counts and white cell differentiation. Case 1 was a 21-year-old woman patient with repaired right cleft lip. She was admitted for alveolar bone grafting and closure of oronasal fistula. Abnormal presentation of blast cells was found, and subsequent bone marrow study confirmed acute lymphocytic leukemia. Case 2 was a 26-year-old man with left secondary cleft lip nasal deformity scheduled to receive staged reconstructive operations. An elevated platelet count was found and subsequently confirmed to represent essential thrombocytosis. In both cases, reconstructive operations for the cleft-related deformities were performed. CONCLUSIONS: Association of major hematological disorders and cleft lip, palate, or both is rare and is reported herein.     

Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.

Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome. To date, there have been no reports to document wound healing after cleft lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature. There have been no reported instances of wound healing complications in affected patients. Seventeen percent (3/18) of reported patients required revisions or repair of oronasal fistulae. Cleft lip and palate repair can be performed safely in patients with Hay-Wells syndrome.     

The branchio-oculo-facial syndrome

We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delineated autosomal dominant disorder with highly variable expression. This condition has a distinctive phenotype with characteristic craniofacial abnormalities consisting of aplastic or hemangiomatous cervical skin lesions with or without branchial sinuses; malformed, rotated auricles; and ocular abnormalities, which include microphthalmia or anophthalmia, coloboma, and cataract. The term pseudocleft has been used to describe the upper lip and philtrum abnormality found in mild cases, but the expression may extend to that of a complete cleft lip and palate. This unique disorder may go undetected in patients followed in cleft palate or craniofacial clinics and may not be recognized in patients with mild expressions. Genetic counseling for affected individuals is imperative because of the 50 percent recurrence risk. We emphasize the multidisciplinary care required to correct their craniofacial anomalies.     

Cheilitis glandularis: a pediatric case report

Cheilitis glandularis is a rare disorder, usually affecting the lower lip of adults. This case involved both lips of an adolescent male. A familial history of the condition may have contributed to the involvement of both lips, and may reinforce the importance of hereditary tendency in the development of cheilitis glandularis. Emotional disturbance and poor oral hygiene also had a role in the disorder in this case, which was successfully treated with surgery.     

Cheilitis glandularis: An unusual presentation in a patient with HIV infection

Cheilitis glandularis is a rare disorder of unknown etiology characterized by inflammation of the minor salivary glands of the lower lip. The present report details the features of a patient who presented with cheilitis glandularis and was subsequently found to also have undiagnosed HIV infection.     

Dento-skeletal implications of Klippel-Feil syndrome [a case report

Klippel-Feil syndrome is a disorder characterized by failure of normal segmentation of any two of the seven cervical vertebrae. It presents with a high frequency of cleft lip and/or palate and occasional oligodontia in both the primary and permanent dentition, craniofacial asymmetry, maxillary constriction and velopharyngeal insufficiency.     

Parent and child ratings of satisfaction with speech and facial appearance in Flemish pre-pubescent boys and girls with unilateral cleft lip and palate

The purpose of this controlled study is to determine satisfaction with speech and facial appearance in Flemish pre-pubescent children with unilateral cleft lip and palate. Forty-three subjects with unilateral cleft lip and palate and 43 age and gender matched controls participated in this study. The Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Both the cleft palate subjects and their parents were satisfied with the speech and facial appearance. The Pearson χ(2) test revealed significant difference between the cleft palate and the control group regarding hearing, nasal aesthetics and function, and the appearance of the lip. An in depth analysis of well specified speech characteristics revealed that children with clefts and their parents significantly more often reported the presence of an articulation, voice and resonance disorder and experienced /s/ /r/ /t/ and /d/ as the most difficult consonants. To what extent the incorporation of specific motor oriented oral speech techniques regarding the realisation of specific consonants, attention to vocal and ear care, and the recommendation of secondary velopharyngeal surgery, with the incorporation of primary correction of the cleft nose deformity simultaneously with primary lip closure, will aid these patients are future research subjects.     

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome

Van der Woude syndrome (VWS) is a common autosomal dominant disorder with cleft lip and/or palate and lower lip pits. Its prevalence is estimated to be 1/33,600 in the Finnish Population, and 1/47,813 in the Japanese. We performed mutation analysis of the IRF6 gene by direct sequencing in 2 unrelated Japanese families that consist of a total of 3 affected members with cleft lip and palate associated with lower lip pits. Consequently, we found novel base substitutions, 25C>T, in IRF6-exon 3 in a boy, his mother, and his phenotypically normal maternal grandmother in one of the families. A known mutation, 250C>T, was identified in exon 4 of a girl and her unaffected father in the other family. The same mutations were never observed among 190 healthy Japanese. The results indicate incomplete penetrance and variable expressivity in the families. Because 25C>T and 250C>T predict to lead to R9W and R84C substitutions, respectively, at the most conserved DNA binding domain of IRF6, and because arginine at positions 9 and 84 is highly conserved among IRFs, the 2 mutations may lead to abolish the DNA binding activity in the developing craniofacial region. To our knowledge, this is the first report of IRF6 mutations observed in Japanese VWS patients.     

Factors that influence ratings of facial appearance for children with cleft lip and palate

This study examined the influence of familiarity and gender of raters on judgments of facial appearance for individuals with repaired cleft lip and palate. Forty professionals familiar with cleft lip and palate and forty individuals unfamiliar with the disorder were asked to examine photographs of 24 adolescents and rate them for facial appearance. The familiar judges assigned more negative ratings of facial appearance than did the unfamiliar judges. In addition, males responded more negatively than did females. There was also a significant gender by familiarity interaction, with familiar males assigning more negative ratings of appearance than any other group.     

Granulomatous cheilitis: a study of six cases

OBJECTIVE: Granulomatous cheilitis (GC) is a very rare disorder of unknown etiology. Clinically, GC is characterised by recurrent swelling of the labial tissues, which may be followed by a permanent enlargement. Histologically, the typical form of GC is characterised by the formation of scattered aggregates of non-caseating granulomaS. GC is the most frequent sign of orofacial granulomatosis, a disorder under which also encompasses sarcoidosis, Crohn's disease, atypical tuberculosis, Anderson-Fabry disease, possibly some allergic reactions, and Melkersson-Rosenthal syndrome (MRS).Some consider GC as an oli-gosymptomatic or monosymptomatic form of MRS.
SUBJECTS AND METHODS: In this study we examined the clinical records of six patients presenting with GC which were examined and treated in the Department of Oral Medicine and Pathology of the Dental School of Aristotle University of Thessaloniki (Greece) during a 16-year period. In five of six patients a persistent swelling of the lower lip was recorded, one of whom also developed swelling in the upper lip. In one case the swelling was present in both lips and in another the GC was the only clinical finding, while in the other five cases it was accompanied by at least one other feature of MRS. In five cases, the histological picture revealed non-caseating granulomas.
RESULTS: The treatment with the intralesional infusion of corticosteroids in three cases and the oral administration of corticosteroids in two cases was successful. One of the patients refused to be treated. This patient also presented later with permanent swelling of the upper lip.     

Localized scleroderma in a 12-year-old girl presenting as gingival recession. A case report and literature review.

Scleroderma is a connective tissue disorder that displays considerable clinical heterogeneity. This case describes a 12-year-old girl who presented with a localized form of the disease. The consequences were a severe and progressive localized gingival recession affecting two maxillary incisors, a localized lip defect and scarring of the forehead. The case illustrates the difficulties in diagnosis and management of young patients with localized scleroderma.     

Fibrolipomatous hamartoma in a patient with tuberous sclerosis: report of a case

Tuberous sclerosis is a rare congenital disorder with an incidence of 1 in 6000 births. The classic triad is seizure, mental deficiency, and angiofibromas. Orofacial manifestations include fibrous hyperplasia, hemangioma, bifid uvula, cleft lip and palate, macroglossia, high arched palate, and enamel defects. Benign tumors of the jaws including desmoplastic fibroma, calcifying odontogenic tumor, and odontogenic myxoma have been recently reported in tuberous sclerosis. This case report adds fibrolipomatous hamartoma of the mandible to this list.     

Two cases of single-stage lip and nostril reconstruction in holoprosencephaly

Holoprosencephaly is a rare disorder of embryological development that presents with midline clefting of the lip. The incidence has been estimated at approximately 1 in 15,000. Previously, infants with severe holoprosencephaly were thought to die within 1-2 years of birth and seldom to benefit from surgery. Survival has increased with improved perinatal care and support services. Parents often request complete cheiloplasty, because the presence of a columella greatly influences aesthetic outcome. The authors report two cases of simultaneous columella reconstruction with cheiloplasty.     

Overdiagnosis and medication for attention-deficit hyperactivity disorder in children with cleft: diagnostic examination and follow-up.

OBJECTIVE: To examine the diagnosis of attention-deficit hyperactivity disorder (ADHD) in children with cleft to determine whether language-learning characteristics are taken into account when making this diagnosis. DESIGN: Prospective examination of 177 consecutive patients. Objective behavioral ratings, cognitive assessments, and attention/impulsivity testing of 32 of the 177 children with nonsyndromic cleft lip and palate (CLP) who had previously been diagnosed as ADHD and were receiving medication were performed. the prospective 6- to 9-month follow-up examination was examined to determine the accuracy of prior and posttest diagnoses. SETTING: University hospital-based cleft palate clinic. MAIN OUTCOME MEASURES: Pretest/posttest design to determine accuracy of DSM-IV psychiatric diagnosis. RESULTS AND CONCLUSIONS: The results show that the proportion of children originally diagnosed with ADHD (18%) was significantly higher than posttest diagnosis of ADHD (6% p <.001). Also, the frequency of pretest diagnosis of learning disorder (LD; 31%) was significantly different from posttest diagnosis (66% p <.01). The overdiagnosis of ADHD and underdiagnosis of LD in this sample of children with nonsyndromic unilateral cleft lip and palate appears to be due to lack of language-learning assessment.