scholarly journals Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Vincenzo Antona ◽  
Mario Giuffré ◽  
Federica Li Pomi ◽  
Lucia Lo Scalzo ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Missense Mutation ◽  
Cleft Lip ◽  
Ectodermal Dysplasia ◽  
Clinical Signs ◽  
Clinical Report ◽  
Sequencing Analysis ◽  
Genetic Syndrome ◽  
Cleft Lip Palate

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereby report on a female newborn with erythroderma, thin lamellar desquamations, extensive skin erosions, sparse and wiry hair, filiform ankyloblepharon adnatum, agenesis of the lachrymal puncta, cleft palate and nail dysplasia. Her phenotype was compatible with AEC syndrome. Then, based on the clinical suspicion, sequencing analysis of the TP63 gene was performed, and revealed a de novo novel missense mutation. Eyelids adherence and cleft palate underwent surgical correction, while skin erosions were treated with topical antibiotics/antifungals and emollient/re-epithelizing creams. A surgical reconstruction is presently planned for the agenesis of the lachrymal puncta. The infant currently is 17 months of age and is included in a multidisciplinary follow-up. At present shows growth impairment and mild developmental delay, and typical signs of ectodermal dysplasia with small areas of dermatitis lesions on the scalp, without further abnormalities. Conclusions Our report underlines the relevance of an early and careful clinical evaluation in neonates with ankyloblefaron, facial dysmorphism, and signs of ectodermal dysplasia. In these cases, the suspicion of AEC syndrome must be promptly raised, and sequencing analysis of TP63 early performed as well. An individualized, multidisciplinary and long-term follow-up should be guaranteed to affected subjects and their families, also to identify associated morbidities and prevent possible serious complications and adverse outcomes.

scholarly journals Isoform-Specific Roles of Mutant p63 in Human Diseases

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 536
Author(s):  
Christian Osterburg ◽  
Susanne Osterburg ◽  
Huiqing Zhou ◽  
Caterina Missero ◽  
Volker Dötsch
Keyword(s):  
Cleft Lip ◽  
Ectodermal Dysplasia ◽  
Skin Development ◽  
Disease Mechanisms ◽  
Skin Fragility ◽  
Cleft Lip Palate ◽  
Life Threatening ◽  
Functional Consequences ◽  
Development And Differentiation

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.

Five-Year Follow-Up Treatment of an Ectodermal Dysplasia Patient with Maxillary Anterior Composites and Mandibular Denture: A Clinical Report

2010 ◽  
Vol 19 (4) ◽  
pp. 294-298 ◽  
Author(s):  
Reza Khazaie ◽  
Eva M. Berroeta ◽  
Camila Borrero ◽  
Arman Torbati ◽  
Winston Chee
Keyword(s):  
Ectodermal Dysplasia ◽  
Clinical Report

Phonological Profile of Patients With Velopharyngeal Dysfunction and Palatal Anomalies

2021 ◽  
pp. 1-15
Author(s):  
Ariela Nachmani ◽  
Muhamed Masalha ◽  
Firas Kassem
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Age Groups ◽  
Phonological Process ◽  
Phonological Processes ◽  
Process Error ◽  
Submucous Cleft Palate ◽  
Different Types

Purpose This purpose of this study was to assess the frequency and types of phonological process errors in patients with velopharyngeal dysfunction (VPD) and the different types of palatal anomalies. Method A total of 808 nonsyndromic patients with VPD, who underwent follow-up at the Center for Cleft Palate and Craniofacial Anomalies, from 2000 to 2016 were included. Patients were stratified into four age groups and five subphenotypes of palatal anomalies: cleft lip and palate (CLP), cleft palate (CP), submucous cleft palate (SMCP), occult submucous cleft palate (OSMCP), and non-CP. Phonological processes were compared among groups. Results The 808 patients ranged in age from 3 to 29 years, and 439 (54.3%) were male. Overall, 262/808 patients (32.4%) had phonological process errors; 80 (59.7%) ages 3–4 years, 98 (40, 0%) ages 4.1–6 years, 48 (24.7%) 6.1–9 years, and 36 (15.3%) 9.1–29 years. Devoicing was the most prevalent phonological process error, found in 97 patients (12%), followed by cluster reduction in 82 (10.1%), fronting in 66 (8.2%), stopping in 45 (5.6%), final consonant deletion in 43 (5.3%), backing in 30 (3.7%), and syllable deletion and onset deletion in 13 (1.6%) patients. No differences were found in devoicing errors between palatal anomalies, even with increasing age. Phonological processes were found in 61/138 (44.20%) with CP, 46/118 (38.1%) with SMCP, 61/188 (32.4%) with non-CP, 70/268 (26.1%) with OSMCP, and 25/96 (26.2%) with CLP. Phonological process errors were most frequent with CP and least with OSMCP ( p = .001). Conclusions Phonological process errors in nonsyndromic VPD patients remained relatively high in all age groups up to adulthood, regardless of the type of palatal anomaly. Our findings regarding the phonological skills of patients with palatal anomalies can help clarify the etiology of speech and sound disorders in VPD patients, and contribute to general phonetic and phonological studies.

scholarly journals Prosthetic Rehabilitation of Cleft Lip Palate with Andrews Bridge Modified as Obturator Prosthesis: Case Report

2020 ◽  
Vol 24 (1) ◽  
pp. 57-61
Author(s):  
Almina Murić ◽  
Demet Cagil Ayvalioglu ◽  
Bilge Gokcen Rohlig
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Radiographic Evaluation ◽  
Congenital Defects ◽  
Prosthetic Rehabilitation ◽  
Removable Partial Denture ◽  
Partial Denture ◽  
Cleft Lip Palate

SummaryBackground/Aim: Congenital defects such as cleft palate and lips require a long-lasting and multidisciplinary approach. In cases when surgical and orthodontic treatment is not feasible, prosthodontic management of these patients is advocated. Prosthetic rehabilitation of cleft palate in concerning of achieving aesthetic and function (such as swallowing and speech) outcomes is very demanding.Case report: Material and method: After performing the necessary surgical procedures and orthodontic treatment, 24-years-old male patient was sent to the Department for Maxillofacial Prosthetics of Istanbul University. Followed the clinical examination, the necessary periodontal and conservative therapy was performed. After radiographic evaluation and dental cast analysis prosthetic rehabilitation was performed. The prosthetic rehabilitation of cleft palate was accomplish with conventional fixed partial denture whose number of included abutment were defined by biomechanical principles. Additionally removable partial denture were manufactured for closing oro-nasal defects and lip supporting.Conclusions: The prosthetic rehabilitation resulted with functionally and aesthetically content prosthesis. With achieving proper swallowing Quality of Life of the patient was enormously enhanced.

Treatment of Asymmetric Velopharyngeal Insufficiency with Skewed Pharyngeal Flap

1994 ◽  
Vol 31 (4) ◽  
pp. 287-294 ◽  
Author(s):  
Ravelo V. Argamaso ◽  
Gerald J. Levandowski ◽  
Karen J. Golding-Kushner ◽  
Robert J. Shprintzen
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Tumor Resection ◽  
Velocardiofacial Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Lateral Pharyngeal Wall ◽  
Pharyngeal Wall ◽  
Wall Movement ◽  
Hypernasal Speech

Twenty-two patients, with hypernasal speech and asymmetric velopharyngeal insufficiency (VPI) identified preoperatively by multi-view videofluoroscopy and nasopharyngoscopy, were managed with superiorly based pharyngeal flaps skewed to the side with reduced lateral pharyngeal wall movement. Patient age ranged from 5 to 58 years. The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, velocardiofacial syndrome, tumor resection or latrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia. Follow-up, at 1 year and thereafter, showed resolution of VPI in all but two patients. An auxiliary flap to augment the primary flap was added on the side of diminished lateral pharyngeal wall motion which corrected the residual VPI. Three patients developed hyponasality. One was a child whose symptoms improved with time and growth. Two were adults, but the hyponasal resonance was mild and required no further Intervention. The advantage of skewing flaps is that at least one port functions adequately for ease in respiration and for drainage of secretions, thus reducing the risk of nasal obstruction. One open port also allows access for nasoendotracheal intubation should anesthetic be required for future operations.

Prevalence of Cleft Lip/Palate in the Fangshan District of Beijing, 2006-2012

2018 ◽  
Vol 55 (9) ◽  
pp. 1296-1301 ◽  
Author(s):  
Yanfen Yang ◽  
Hui Liu ◽  
Ruixin Ma ◽  
Lei Jin
Keyword(s):  
Data Analysis ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Upward Trend ◽  
Live Births ◽  
Cleft Lip Palate ◽  
Obstetric Services ◽  
Permanent Residents ◽  
Beijing China

Objective: To estimate the cleft lip with or without cleft palate (CL/P) prevalence among births between 2006 and 2012 in Fangshan district of Beijing, China. Design: Surveillance data analysis. Setting: All hospitals that provide obstetric services in the district. Patients: The CL/P cases presented for this report were from 13 weeks’ gestation to 7 days postpartum. Main Outcome Measures: The CL/P prevalence was defined as the number of cases per 10 000 births, including live births and stillbirths at 28 weeks’ gestation or beyond. Results: The overall CL/P prevalence was 18.9 (95% confidence interval [CI]: 15.1-22.7) per 10 000 births. From 2006 to 2012, the CL/P prevalence was 19.3, 20.2, 10.9, 16.1, 17.5, 25.4, and 22.3 per 10 000 births; annually, no significant change was noted ( Pfor trend = .311). The prevalence of cleft palate, cleft lip, and cleft lip and palate were 3.4 (95% CI: 2.0-5.4), 6.2 (95% CI: 4.2-8.8), and 9.4 (95% CI: 6.9-12.4) per 10 000 births, respectively. The CL/P prevalence among the nonpermanent residents (31.4 per 10 000 births) was 2.31 times that of permanent residents (13.6 per 10 000 births). Among nonpermanent residents, the CL/P prevalence showed an upward trend over the study period ( Pfor trend = .036), that increased from 38.8 (95% CI: 16.5-76.6) per 10 000 births in 2006 to 54.6 (95% CI: 25.7-100.4) per 10 000 births in 2012. Conclusions: The overall CL/P prevalence was stable in the Fangshan district. However, the CL/P prevalence of the nonpermanent residents increased significantly.

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