The Experts below are selected from a list of 22824 Experts worldwide ranked by ideXlab platform

Alanna F Bree - One of the best experts on this subject based on the ideXlab platform.

  • pathologic changes of skin and hair in ankyloblepharon ectodermal defects Cleft Lip Palate aec syndrome
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Megan K Dishop, Alanna F Bree, John M Hicks
    Abstract:

    Ankyloblepharon-Ectodermal defects-Cleft Lip/Palate (AEC) syndrome is a rare disorder of hair, skin, nails, and dentition caused by mutations in the p63 gene. Pathologic changes of skin and hair in AEC syndrome have previously been described in isolated case reports. Biopsies of normal and lesional skin from 19 patients with AEC syndrome were examined by light microscopy. Hair samples from 18 patients were examined by light and scanning electron microscopy. Histopathologic changes identified within the skin biopsies from clinically unaffected skin include mild atrophy, focal orthokeratosis, and mild superficial perivascular lymphocytic dermatitis. Scattered melanophages in the superficial and deep dermis likely reflect post-inflammatory change. One patient with a unilateral eruption of monomorphic papulopustules on the chest and shoulder demonstrated an acneiform intraepidermal pustule. Examination of the hair shafts revealed atrophy and loss of melanin pigment in some of the patients. Structural abnormalities included pili torti, pili trianguli et canaliculi, and irregular indentation and shallow grooves. Skin and hair findings in AEC syndrome were found to be generally similar to those described in other ectodermal dysplasia syndromes and corroborates the few prior descriptions in AEC syndrome specifically.

  • dermatologic findings of ankyloblepharon ectodermal defects Cleft Lip Palate aec syndrome
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Meena R Julapalli, Richard K Scher, Virginia P Sybert, Elaine C Siegfried, Alanna F Bree
    Abstract:

    Hay–Wells syndrome, caused by mutations in the p63 gene, is an autosomal dominant ectodermal dysplasia with the main features of ankyloblepharon filiforme adnatum, ectodermal defects, and Cleft Lip/Palate, from which the disorder's other name, AEC syndrome, is derived. The National Foundation for Ectodermal Dysplasias convened the International Research Symposium for AEC Syndrome on November 8–10, 2006, at Texas Children's Hospital/Baylor College of Medicine, Houston, TX with appropriate IRB approval. This multidisciplinary conference was the largest gathering of such patients to date and allowed us to further characterize dermatologic features of AEC syndrome, which included: sparse and wiry hair, nail changes, past or present scalp erosions, decreased sweat production, palmar/plantar changes, and unique pigmentary anomolies. Early recognition of the features of AEC syndrome and subsequent early diagnosis is important in minimizing invasive diagnostic studies, improving morbidity and mortality, and providing genetic counseling. Skin erosions, especially those of the scalp, were identified as the most challenging cutaneous aspect of this syndrome. Although the reasons for the skin erosions and poor healing are not known, mutations of p63 may lead to a diminished store of basal cells capable of replenishing the disrupted barrier. Therapeutic strategies currently under exploration include gene therapy, as well as epidermal stem cell therapy. Until then, gentle wound care and limiting further trauma seem to be the most prudent treatment modalities. © 2009 Wiley-Liss, Inc.

  • craniofacial and anthropometric phenotype in ankyloblepharon ectodermal defects Cleft Lip Palate syndrome hay wells syndrome in a cohort of 17 patients
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Reid V Sutton, Alanna F Bree, Katie Plunkett, Diane X Dang, Richard A Lewis, Carlos A Bacino
    Abstract:

    Ankyloblepharon-ectodermal dysplasia-Cleft Lip/Palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far.

  • clinical lessons learned from the international research symposium on ankyloblepharon ectodermal defects Cleft Lip Palate aec syndrome
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Alanna F Bree
    Abstract:

    The International Research Symposium on ankyloblepharon-ectodermal defects-Cleft Lip/Palate (AEC) Syndrome, that was supported by the National Foundation for Ectodermal Dysplasias (NFED) through a grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institutes of Health Office of Rare Diseases (NIH-ORD), brought together physicians, scientists, and 23 individuals affected by AEC syndrome from 13 families. Eighteen of the AEC-affected individuals were enrolled in an IRB-approved protocol through Baylor College of Medicine. Enrolled participants had clinical evaluations by multiple subspecialists, and additionally submitted blood for mutational analysis and skin specimens for pathologic evaluation. One of the goals of the conference was to define clinical and pathologic findings for improved diagnostic criteria, with the hope of determining genotype–phenotype correlations that might aid in predicting prognosis or directing therapeutics. What we found was wide interfamilial and intrafamilial variability in the manifestations of the syndrome. We were unable to identify any specific genotype–phenotype correlations. This may relate to our small sample size or other unknown epigenetic factors that are also at play in the expression and manifestation of the syndrome in specific individuals. © 2009 Wiley-Liss, Inc.

  • facial Clefting and oroauditory pathway manifestations in ankyloblepharon ectodermal defects Cleft Lip Palate aec syndrome
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Patrick Cole, Alanna F Bree, Daniel A Hatef, Yoav Kaufman, Amy Magruder, Ellen M Friedman, Raj Sindwani, Larry H Hollier
    Abstract:

    Ankyloblepharon–ectodermal defects-Cleft Lip/Palate (AEC) Syndrome is a rare disorder characterized by ectodermal dysplasia, along with other malformations such as Cleft Lip and Palate, and various secondary issues such as chronic sinusitis, otitis media, and conductive hearing loss (CHL). The International Research Symposium for AEC Syndrome convened at Baylor College of Medicine in Houston, Texas. Patients with a suspected diagnosis of AEC syndrome attended, and members of the dental, dermatology, plastic surgery, otolaryngology, and audiology services examined each patient. Eighteen patients with a diagnosis of AEC were evaluated. Mean age was 7.5 years (range: 4 months–30 years). Fourteen of the 15 subjects tested (93.33%) demonstrated CHL, with seven showing moderate to severe hearing deficits (41–90 dB). Nine of 13 respondents reported hoareness or voice problems; 8 were noted to display this on examination. Fourteen of 16 subjects reported speech was below average for age; 8 were in speech therapy. All 18 subjects reported a history of otitis externa or otitis media. Eleven of the subjects (61.11%) required myringotomy and pressure equalizing (PE) tubes. All patients demonstrated Cleft Palate defects. Of these, 16 (94.11%) presented with Clefting of the soft Palate, and 10 (58.82%) showed hard Palate defects. Three subjects (16.67%) were noted to have submucous Clefts. Our experience leads us to propose that while the oroauditory problems in those with AEC syndrome is likely multifactorial, many issues may stem from palatal Clefting. Despite this, some abnormalities persist following surgical Cleft closure, which indicates other complicating factors are also involved. © 2009 Wiley-Liss, Inc.

Yoshimitsu Fukushima - One of the best experts on this subject based on the ideXlab platform.

Edward A Ratovitski - One of the best experts on this subject based on the ideXlab platform.

  • international research symposium on ankyloblepharon ectodermal defects Cleft Lip Palate aec syndrome
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Mary Fete, Hans Vanbokhoven, Suzanne E Clements, Frank Mckeon, Dennis R Roop, Maranke I Koster, Caterina Missero, Laura D Attardi, Vivian A Lombillo, Edward A Ratovitski
    Abstract:

    Ankyloblepharon-ectodermal defects-Cleft Lip/Palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping-stone to future translational projects of TP63 and TP63-related syndromes.

Hans Van Bokhoven - One of the best experts on this subject based on the ideXlab platform.

  • spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon ectodermal defects Cleft Lip Palate syndrome aec
    American Journal of Medical Genetics Part A, 2009
    Co-Authors: Tuula Rinne, Emine Bolat, Rowdy Meijer, H Scheffer, Hans Van Bokhoven
    Abstract:

    Heterozygous mutations in the p63 gene underlie a group of at least seven allelic syndromes, including ankyloblepharon-ectodermal defects-Cleft Lip/Palate syndrome (AEC) and Rapp Hodgkin syndrome (RHS), which involves varying degrees of ectodermal dysplasia, orofacial Clefting and limb malformations. Mutations in the AEC and Rapp Hodgkin syndromes cluster in the 3' end of the p63 gene. Previously reported mutations are mainly missense and frameshift mutations in exons 13 and 14, affecting the p63alpha-specific SAM (sterile alpha motif) and TI (transactivation inhibitory) domains. A patient cohort affected by AEC syndrome was evaluated during International Research Symposium supported by the National Foundation for Ectodermal Dysplasias. Nineteen patients underwent full clinical evaluations and 18 had findings consistent with a diagnosis of AEC syndrome. These 19 patients, along with 5 additional relatives had genomic DNA analysis. Twenty-one of the 24 participants from 12 families were found to have mutations in the p63 gene. Eleven different mutations were identified; 10 were novel mutations. Eight were missense mutations within the coding region of the SAM domain. Three other mutations were located in exon 14 sequences, which encode the TI domain. The effects of the mutations in the SAM and TI domains are poorly understood and functional studies are required to understand the pathological mechanisms. However, AEC and RHS mutations in the 5' and 3' ends of the p63 gene point towards a critical role of the DeltaNp63alpha isoform for the AEC/RHS phenotype.

John B Mulliken - One of the best experts on this subject based on the ideXlab platform.

  • three dimensional analysis of nasal symmetry following primary correction of unilateral Cleft Lip nasal deformity
    The Cleft Palate-Craniofacial Journal, 2017
    Co-Authors: Olivia E Linden, John B Mulliken, Helena O Taylor, Sivabalan Vasudavan, Margaret E Byrne, Curtis K Deutsch, Stephen R Sullivan
    Abstract:

    Objective:  To evaluate nasal symmetry using three-dimensional photogrammetry following primary tip rhinoplasty with or without an internal splint in patients with unilateral complete Cleft Lip/Palate. Design:  We captured three-dimensional images of patients with unilateral complete Cleft Lip/Palate who underwent nasolabial repair by rotation-advancement of the Lip and primary tip rhinoplasty, either with or without an internal resorbable splint, and normal control subjects. We assessed nasal symmetry by identifying the plane of maximum symmetry and the root-mean-square deviation between native and reflected surfaces. Patients/Participants:  We imaged 38 controls and 38 subjects with repaired unilateral complete Cleft Lip/Palate (20 with, 18 without an internal splint). Results:  Nasal asymmetry root-mean-square deviation clustered between 0.19 and 0.50 mm (median = 0.24 ± 0.08 mm) for controls; whereas, those with repaired unilateral complete Cleft Lip/Palate ranged from 0.4 to 1.5 mm (median = 0.75 ± 0...

  • facial growth in children with complete Cleft of the primary Palate and intact secondary Palate
    Journal of Oral and Maxillofacial Surgery, 2009
    Co-Authors: Elliot L Saperstein, Daniel L Kennedy, John B Mulliken, Bonnie L Padwa
    Abstract:

    Purpose Children with unoperated Cleft Lip/Palate have nearly normal facial growth, whereas patients who have had labiopalatal repair often exhibit midfacial retrusion. The aim of this study was to compare cephalometric data in patients with repaired unilateral or bilateral complete Cleft Lip/alveolus (UCCLA or BCCLA) with patients with repaired unilateral or bilateral complete Cleft Lip/Palate (UCCLP or BCCLP). This study might provide insight into the etiology of impaired facial growth in patients with repaired Cleft Lip/Palate. Materials and Methods This was a retrospective, cross-sectional analysis of nonsyndromic patients with UCCLA, BCCLA, UCCLP, and BCCLP. Angular and linear measurements of the midfacial region were made on traced lateral cephalograms. Paired t tests were used to compare each group with normative controls from the Michigan Growth Study. Multivariate analysis of variance was used to determine possible differences among the groups. Results There were 77 patients (38 male and 39 female) with a mean age of 11.2 years (range, 6 to 16 years; UCCLA, n = 25; BCCLA, n = 7; UCCLP, n = 18; and BCCLP, n = 27). There was no significant difference in midfacial position between the UCCLA and BCCLA groups and nonCleft age-matched controls. In contrast, the maxilla in patients with UCCLP and BCCLP was significantly smaller and more retruded ( P Conclusions Children with UCCLA and BCCLA appear to have normal midfacial growth, whereas the maxilla in children with UCCLP and BCCLP is small and retrusive. This study suggests that the presence and/or repair of the secondary Palate is responsible for midfacial hypoplasia in these patients.

  • three dimensional prenatal diagnosis of frontonasal malformation and unilateral Cleft Lip Palate
    Ultrasound in Obstetrics & Gynecology, 2002
    Co-Authors: John B Mulliken, Thomas D Shipp, Bryann Bromley, Beryl R Benacerraf
    Abstract:

    Frontonasal malformation includes a spectrum of anomalies involving the eyes, nose, Lips, forehead and brain. We present a case in which a fetal labial Cleft was initially identified using traditional two-dimensional sonography. Three-dimensional sonography with multiplanar reconstruction and surface-rendering were essential to establish the diagnosis of frontonasal malformation with severe nasal hypoplasia and unilateral complete Cleft Lip/Palate.

  • three dimensional prenatal diagnosis of frontonasal malformation and unilateral Cleft Lip Palate
    Ultrasound in Obstetrics & Gynecology, 2002
    Co-Authors: John B Mulliken, Thomas D Shipp, Bryann Bromley, Beryl R Benacerraf
    Abstract:

    Frontonasal malformation includes a spectrum of anomalies involving the eyes, nose, Lips, forehead and brain. We present a case in which a fetal labial Cleft was initially identified using traditional two-dimensional sonography. Three-dimensional sonography with multiplanar reconstruction and surface-rendering were essential to establish the diagnosis of frontonasal malformation with severe nasal hypoplasia and unilateral complete Cleft Lip/Palate. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology

  • children with repaired bilateral Cleft Lip Palate effect of age at premaxillary osteotomy on facial growth
    Plastic and Reconstructive Surgery, 1999
    Co-Authors: Bonnie L Padwa, Andrew L Sonis, Shahrokh C Bagheri, John B Mulliken
    Abstract:

    This study compared facial growth in three groups of patients with bilateral complete Cleft Lip/Palate: those who had (1) no premaxillary osteotomy, (2) premaxillary osteotomy before age 8 years, and (3) premaxillary osteotomy after age 8 years. Of 24 children with bilateral complete Cleft Lip/Palate, 7 had early premaxillary osteotomy (mean age, 6.1; range, 3.7 to 7.6 years), 10 had late osteotomy (mean age, 11.2; range, 8.3 to 20.7 years), and 7 did not require premaxillary repositioning and served as controls (mean age, 12.4; range, 6.4 to 17.8 years). Presurgical and postsurgical lateral cephalograms were digitized using the Dentofacial Planner software; most current lateral cephalograms comprised the control group. Forty-one bony and 25 soft-tissue landmarks were digitized, and 8 angles were measured: SNA, (sella-nasion-A point), SNPg (sella-nasion-pogonion), ANB (A point-nasion-B point), NAPg (nasion-A point-pogonion), ST convexity (glabella-subnasale-soft-tissue pogonion), Sn-G vertical (line perpendicular to the horizontal plane dropped from glabella and distance measured from subnasale to this vertical), Cm-Sn-Ls (columella-subnasale-abial superioris), and Sn-Gn-C (subnasale-soft-tissue gnathion-chin point). Statistical difference in mean preoperative and postoperative values were measured with analysis of variance. Tests of significance were adjusted for multiple comparisons using the Bonferroni correction. Mean age at follow-up for early, late, and control groups was 11.8, 14.0, and 12.4 years, respectively. Mean follow-up for early and late groups was 5.7 and 2.8 years. There was a significant preoperative difference among the three groups for mean SNA (p < 0.01), ANB (p < 0.01), and NAPg (p < 0.01). Bonferroni analyses revealed that the early group had significantly greater SNA, ANB, and NAPg angles than the late (p < 0.01) and control groups (p < 0.05). There was a significant postoperative difference among groups for ANB (p < 0.05); Bonferroni analyses also showed that the control group had a significantly greater ANB than the late group (p < 0.05). The t test for equity of means established postoperative change for SNA (p < 0.01), ANB (p< 0.01), NAPg (p < 0.01), and ST convexity (p < 0.01) for the early group was significantly greater than for the late group. Children who required early premaxillary positioning had more significant preoperative deformity; however, this group's postoperative profile was not, on average, significantly different from either the late or control groups. Our findings that the early group had more significant change with premaxillary osteotomy than the late group suggest that premaxillary positioning can be done before completion of facial growth without compromise.