Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)

The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.     

Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report

Ectrodactyly ectodermal dysplasia with clefting is a rare syndrome resulting from TP63 gene mutations. It is inherited in autosomal dominant manner or as a de novo transfiguration. It is characterized by a triad of ectodermal dysplasia, ectrodactyly, and facial clefts. This report represents a clinical case of 5 years and 6 months‐old male child with ectrodactyly ectodermal dysplasia cleft lip and palate syndrome requiring treatment of his carious teeth. After history taking and clinical examination, the necessary treatment was provided under general anesthesia due to the definitely negative behavior of the child. The treatment outcomes had a positive impact on the behavior and acceptance to dental treatment. This was evidenced by completion of the prosthetic and space management appliances on the dental chair. The child's quality of life was consequently improved. This was evidenced by the reduced response scores of the child perception questionnaire (CPQ_11‐14) after treatment. This report highlighted the value of proper diagnosis and fulfillment of the unmet dental needs for patients with orofacial syndromes to improve their quality of life.     

先天性缺指(趾)-外胚叶发育不全-唇/腭裂综合征的临床和遗传学特点

目前,以先天性缺指(趾)、并指(趾)或手足裂和外胚叶发育不全伴或不伴腭裂的唇裂为主要临床表现的先天性缺指(趾)-外胚叶发育不全-唇/腭裂(EEC)综合征的病因仍然不明,给疾病的防治带来了较大的困难.迄今为止,分子遗传学研究已定位了EEC综合征的3个基因座,克隆到1个致病基因.EEC综合征临床表现复杂,外显率和表现度在人群中差异较大,临床上还存在一系列症状相似的EEC类似综合征,不易鉴别.本文剖析EEC综合征的临床和遗传学特点,将有利于临床医师进行诊断和鉴别诊断,并为下一步病因学研究提供帮助.     

Anhydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A case report

The ectodermal dysplasias (EDs) are a complex group of diseases clinically characterised by congenital absence of ectodermally derived structures. The present report details the features of a 13 year old schoolboy with the rare anhydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome).     

Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report

Hereditary ectodermal dysplasia is an inherited disorder characterized by aplasia or dysplasia of ectodermal tissues, such as hair, nails, teeth, and skin, that occurs in approximately 1 in every 100,000 live births. Dental abnormalities and abnormal facial appearance are of major concern in childhood and adolescence, since they can restrict the individual socially and affect his or her self-confidence. Oral rehabilitation in the early stages of the patient's life may provide functional and esthetic restoration as well as safeguard psychologic health. This report presents the clinical procedures involved in the rehabilitation of a 10-year-old female patient with complete bilateral cleft lip and palate and ectodermal dysplasia.     

无汗型外胚叶发育不全1例

先天性无牙症是先天完全无牙或大多数牙齿先天缺失,常是外胚叶发育不全综合征的一种表现.外胚叶发育不全综合征是一类遗传性疾病,表现为牙齿先天缺失、毛发稀疏和皮肤异常等多种症状.本病分为2类:一类为无汗型外胚叶发育不全(EDA)或称少汗型外胚叶发育不全,另一类为有汗型外胚叶发育不全.除了牙齿、毛发、皮肤等结构异常外,EDA患...     

少汗型外胚层发育不全1例

少汗型外胚层发育不全是一种起源于外胚层的组织发育异常的先天性遗传性疾病,本文报道1例少汗型外胚层发育不全病例,并就其分子生物学研究进展进行讨论。     

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate

Kabuki make-up syndrome (Niikawa-Kuroki syndrome), recognized in Japan in 1981, is characterized by mental and growth retardation with specific craniofacial malformation such as lower palpebral eversion and depressed nasal tip. In this paper we describe a case associated with cleft lip and palate. Attention should be paid by maxillofacial surgeons to this syndrome, since 41% of the cases have been associated with cleft lip and palate (Niikawa et al., 1988; Tonoki and Niikawa, 1988).     

少汗型外胚层发育不良：个案报道

外胚层发育不良症是一大类临床表现复杂的疾病，包括超过170余种临床情况。均由外胚层发育受损所导致，其特征为至少以下一种组织的原发性发育缺陷：指甲，头发，汗腺或牙齿。外胚层发育不良在病人幼年时即可影响其情感发育。此例个案报道概述了一个7岁即诊断为少汗型外胚层发育不良的女孩在9岁时通过功能和外貌的修复，以期改善其社交行为的可行方法。     

A case of cleft lip and palate associated with Seckel syndrome.

OBJECTIVE: We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.     

无汗型外胚叶发育不全1例

报告1例外胚叶发育不全病例,患者,女,4岁4个月,因口腔缺牙就诊,亲属中未见此类疾病。患儿全身皮肤汗毛少,头发稀疏,眉毛和睫毛稀少,口腔内牙齿仅存ⅢⅡⅡⅢⅣⅣ及6 6牙胚,牙槽嵴发育不良,采用可摘局部义齿修复,咀嚼功能恢复良好。     

Feeding infants with cleft lip, cleft palate, or cleft lip and palate

In assessing 143 infants with cleft lip and palate, we found feeding problems to vary with the patients' anatomic lesion. Effective feeding techniques were identified by first assessing the infant's ability to generate negative intraoral pressure and to move the tongue against the nipple and then by matching these deficits to appropriate feeding devices.     

EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report

The EEC syndrome (ectrodactyly-ectodermal dysplasia -clefting) is defined as a multiple congenital anomaly syndrome characterized by ectodermal dysplasia, distal limb anomaly, cleft lip/palate, and lacrimal duct anomalies. This case report reviews and presents clinical symptoms and treatment of the EEC syndrome.     

A new syndrome with craniosynostosis and cleft lip and palate

Two unrelated girls with craniosynostosis and bilateral cleft lip and palate who also had developmental delay and umbilical herniae are presented. We propose that these patients have the same condition, and that their combination of features may constitute a new syndrome. Management of the patients is discussed.