AEC综合征1例报告及文献复习

AEC综合征是一种罕见的以睑缘黏连、外胚层发育不全及面裂为主要临床表征的基因病。目前,国内尚未见该病的报道。本文报告1例AEC综合征病例,根据患者的临床表现,制订相应的治疗方案,手术修复左侧唇裂,术后患者外形有一定改善。通过文献复习,对AEC综合征的病因、临床表现、鉴别诊断及序列治疗进行了讨论。由于AEC综合征临床表现多样,严重影响患者面容及生长发育,因此,应增强对本病的认识,并进行系统序列治疗。     

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.     

Orofacial manifestations of Robinow's syndrome: a case report in a pediatric patient

Robinow's syndrome (Online Mendelian Inheritance in Man [OMIM] 268310), or fetal facies syndrome, is a rare genetic disorder causing autosomal dominant and recessive forms. This syndrome includes a series of anomalies such as short stature, characteristic facial dysmorphism (fetal facies), genital hypoplasia, and mesomelic brachymelia. The purpose of the present case is to describe the orofacial manifestations of the syndrome in a pediatric patient: craniofacial features, triangular mouth and a long upper lip philtrum, ankyloglossia, a shortened tongue devoid of tongue tip, a geographic tongue, arched palate, gingival hyperplasia, dental abnormalities (misaligned and crowded teeth), and delayed tooth eruption.     

Self-inflicted oral trauma in a baby with Moebius syndrome

Moebius syndrome (MS) is a rare disorder mainly characterized by bi- or unilateral palsy of the facial and abducens nerves. Among the various orofacial characteristics related to this syndrome, the following are pointed out, difficulty with sucking, tongue malformation, mandibular hypoplasia, saliva drooling, arched palate and micrognathia. In spite of the diversity of oral features described for these patients, self-inflicted oral trauma has not yet been reported. Therefore, the purposes of the present report were to describe an unusual case of a baby with Moebius syndrome who had a parafunctional habit that resulted in a persistent traumatic lesion of the lower lip, and discuss the treatment performed.     

Difficulties in anesthetic management of patients with micrognathia: report of a patient with Stickler syndrome

Stickler syndrome is an autosomal dominant multisystem disorder with characteristic midface hypoplasia, retromicrognathia, cleft palate and a "moon-shaped" appearance. Progressive myopia and retinal degeneration are frequent. It is estimated that one third of all Pierre Robin patients have Stickler syndrome. Patients with a mandibular hypoplasia like Stickler syndrome present the anesthesiologist considerable problems when mask ventilation or endotracheal intubation is attempted. In this case report the difficulties in anesthetic management of patients with micrognathia and repeated anesthetic courses of a child with Stickler syndrome are presented. It is vital to detect the syndrome in early stages so that adequate counseling and treatment may be given to avoid the potentially irreversible and disabling consequences.     

Sotos syndrome with enamel hypoplasia: a case report

A rare case of Sotos syndrome with enamel hypoplasia is described. Dental abnormalities include enamel hypoplasia, expansion of the pulp cavity, high arched palate, and absence of the bilateral pre-molar teeth of the mandible.     

A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome]

EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate. We reported a case of EEC syndrome with cleft palate. The patient was a 15-month-old girl. She had split hands of the upper extremities, syndactyly and polydactyly of the right lower extremity, ectodermal dysplasia including sparse hair, enamel hypoplasia and cleft palate. The patient underwent palatoplasty at the age of 18 months.     

Cleft palate lateral synechia syndrome. Review of the literature and case report

Cleft palate lateral synechiae syndrome is a rare syndrome consisting of cord-like interalveolar adhesions and concomitant hypoplasia of the mandible. We have presented an infant with CPLS syndrome and coincident hydrocephalus. Surgical division of the adhesions is necessary to allow normal feeding, avoid upper airway obstruction, and allow normal mandibular function and growth.     

Nager syndrome (preaxial acrofacial dysostosis): a case report

The Nager syndrome is a rare condition associated with craniofacial malformations such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb deformities. This report features a case of the Nager syndrome occurring in a 4-year-old boy showing microdontia, thumb duplication and radioulnar synostosis, and ventricular septum defect, characteristics not usually encountered in the published cases.     

Dental abnormalities associated with campomelic syndrome: case report

Campomelic syndrome is a rare autosomal recessive disease. It is characterized by short stature with angulation and bowing of the lower limbs, hypoplasia of the facial bones, and various other skeletal anomalies. The facies are unusually flat with micrognathia, frequent cleft palate, hypertelorism, and micro-ophthalmia. Most infants with this syndrome die from severe respiratory distress within the first hours or days of life. Those who survive infancy are mentally retarded. This case report concerns the dental treatment of a 13-year-old female with campomelic syndrome.     

Roberts syndrome,normal cell division,and normal intelligence

Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and normal cell division with typical clinical features of the RS. We report a case of a six-year-old male of clinical and radiologic findings of typical RS with normal cell division and normal intelligence.Although he showed growth retardation, his intelligence was normal. Van Den Berg and Francke later reported that 79 out of 100 cases of Roberts syndrome had premature cell separation (PCS). We think that this case may demonstrate severe expression of the Roberts syndrome even though PCS is not exhibited. The limb involvement of this case was symmetrical, and he showed phocomelia of upper limbs, equinus valgus deformity of ankle, aplasia of fibula, and shortness of fifth toes while his hands and feet were normal with 5 rays each. Craniofacial abnormalities of this case were typical; he showed scaphocephaly, mild hypertelorism, mandibular hypoplasia, dysplastic helix of ear, narrowing of external auditory canal, and cleft palate with wide gap.This report supports the theory that normal intelligence can make social-personal adjustment possible even if all of the stigmata of Roberts syndrome is present.     

Apert syndrome

Apert syndrome (acrocephalosyndactyly) is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.     

Focal dermal hypoplasia. Current concepts and differential diagnosis

Focal dermal hypoplasia syndrome (FDH) is a congenital disorder of mesodermal derivation with some ectodermal participation. The disorder, first described in 1962, is characterized by tenacious defects consisting of thinning of the skin; herniations of adipose tissue; abnormal skin pigmentation and other skeletal, dental, ocular, hair, and nail abnormalities. A rare instance of focal dermal hypoplasia syndrome is reported as characterized by papillary gingival hyperplasia. Differential diagnostic guidelines that separate focal dermal hypoplasia from a host of other skin and mucous membrane disorders are discussed along with therapeutic modalities and the possible relationship of human papillomavirus to focal dermal hypoplasia syndrome.     

唇腭裂伴前颌骨缺损及牙列缺损1例报告

上颌发育不足是唇腭裂患者最常见的并发症,但合并重度牙列缺损者并不多见。此类患者除影响其口腔功能及面部美观外,也增加了其后续序列治疗的难度。本文报告1例该类患者,探索其上颌发育不足及牙列缺损的原因,提出该患者后续治疗的难度所在,提示先天因素和前期治疗的并发症对后续治疗的影响。     

Mobius syndrome: a dental hygiene case study and review of the literature

Mobius syndrome, a rare, non-progressive, congenital neuromuscular disorder, presents with multiple dental and medical complications. Signs and symptoms of this condition include: congenital, bilateral or unilateral palsies of the facial and abducens cranial nerves (cardinal sign), and a broad scope of multisystem abnormalities, which may or may not include the following: opthalmoplegia externa, lingual palsy, clubfoot, branchial malformation, ptosis, mental retardation, and pectoralis muscle defect. From a dental standpoint, a number of anomalies may manifest, including: multiple congenitally missing teeth (both deciduous and permanent), micrognathia, paralysis and hypoplasia of the tongue, absence of facial expression and weakness of the palate. This article reviews the case study of a 40-year-old male client with Mobius syndrome, dental hygiene diagnosis (DHDx) and intervention, and the dental hygienists' responsibility and role in care.     

Distraction in a case of otopalatodigital syndrome type II

INTRODUCTION: Otopalatodigital syndrome type II is a rare X-linked recessive disorder with generalized skeletal dysplasia and hearing anomalies. Its features include conductive hearing loss, unusual facies, cleft palate, micrognathia, and overlapping flexed fingers and toes. It is a more lethal variant of otopalatodigital syndrome type I. There are many consistently reported craniofacial and dental findings; however, no case has been published in dental literature. CASE REPORT: We report a case of otopalatodigital syndrome type II with micrognathia, cleft of the soft palate, and partial anodontia, and discuss the combined orthodontic and surgical management. CONCLUSION: We also discuss the differential diagnosis and consider more recent theories on possible aetiology as well as clinical management strategies for such cases.     

Early orthodontic management of Crouzon Syndrome: a case report

Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction. The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.     

Oculoauriculovertebral spectrum with a full range of severe clinical manifestations – Case report

Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities, hypoplasia of the soft and bony tissues of the face, associated oral deformities and vertebral anomalies. This report presents a child with a choroid of the right eye, coloboma of the upper eyelid, epibulbar dermoid of the left eye, mandibular hypoplasia, facial asymmetry, bilateral complete cleft lip and palate, hypoplasia of the left alar cartilage, appendage of the left nose, butterfly vertebral defects of Th-1, Th-2 and abnormality of rib XI. Widened sulci of frontal and parietal lobes, bilateral white matter density decrease and calcifications of falx cerebelli were noted. Axial hypotony and delayed psycho-motor development were apparent. This rare case presents a range of severe clinical manifestations of oculoauriculovertebral spectrum. Despite a normal cervical vertebral column, tracheostenosis was present. It caused difficulties in tracheal intubation, creating the need for a tracheostomy, and death after a failed attempt at decannulation. This case indicates that in patients with clinical manifestations including cerebral anomalies, a risk of respiratory insufficiency should be always taken under consideration, when planning surgery.     

Oral manifestations in Kindler syndrome: case report and discussion of literature findings

Kindler syndrome is a rare genetic disorder showing some predominant clinical manifestations, for example, trauma‐induced blisters, progressive poikiloderma, skin atrophy, and photosensitivity. Oral manifestations are not commonly described and can be often misdiagnosed. This report describes the case of a female patient diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to oral lesions manifesting as keratotic plaques and ulcers affecting the buccal mucosa, floor of the mouth, alveolar ridge, hard palate, and soft palate. An incisional biopsy was performed to confirm the diagnostic hypothesis of an autoimmune lesion possibly related with the syndrome. Knowledge about the possible manifestations of the Kindler syndrome is important to improve its management.     

Contributions of PTCH gene variants to isolated cleft lip and palate.

OBJECTIVE: Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome. RESULTS: Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cleft lip and/or palate. One of these variants (P295S) was not found in any of 1188 control samples. A second variant was found in a case and also in 1 of 1119 controls. The third missense (S827G) was found in 5 of 1369 cases and in 5 of 1104 controls and is likely a rare normal variant. Linkage and linkage desequilibrium also was assessed using normal variants in and adjacent to the PTCH gene in 220 families (1776 individuals), each with two or more individuals with isolated clefting. Although no statistically significant evidence of linkage (multipoint HLOD peak = 2.36) was uncovered, there was borderline evidence of significant transmission distortion for one haplotype of two single nucleotide polymorphisms located within the PTCH gene (p = .08). CONCLUSION: Missense mutations in PTCH may be rare causes of isolated cleft lip and/or palate. An as yet unidentified variant near PTCH may act as a modifier of cleft lip and/or palate.