Results 51 to 60 of about 186,840 (354)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

The role of the tensor veli palatini muscle in the development of cleft palate-associated middle ear problems

Clinical Oral Investigations, 2016
ObjectiveOtitis media with effusion is common in infants with an unrepaired cleft palate. Although its prevalence is reduced after cleft surgery, many children continue to suffer from middle ear problems during childhood.
D. Heidsieck, B. Smarius, K. Oomen, C. Breugem   +3 more
semanticscholar   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Comparison of Postoperative Complications and Reoperation Rates of Le Fort I Osteotomies Using Demineralized Bone Matrix (DBM) or Autogenous Bone Grafts in Patients with Orofacial Clefts and Craniofacial Malformations

Dentistry Journal
Background: This study aims to evaluate surgical outcomes and compares the prevalence and severity of postoperative complications and reoperations with maxillary osteotomies, focusing on the effectiveness of fixation with demineralized bone matrix (DBM ...
Noémi Sipos, Junnu Leikola, Arja Heliövaara, Eeva Kormi, Juho Suojanen   +4 more
doaj   +1 more source

Association of cervical vertrebra anomalies with cleft lip and palate

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Introduction: The aim of the present study was to evaluate the developmental relationship in the vertebral column in the cervical region and to relate its association in patient′s with cleft lip and palate.
Mudita Srivastava, Anshul Aggarwal, Puneet Batra, Sangeev Datana, Prasanna Kumar, Klara Agneta Macrcusson   +5 more
doaj   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Comparison of two different secondary rhinoplasties in patients with complete unilateral cleft lip and palate

BMC Surgery
Background The purpose of this study was to analysis the nostril symmetry and nasal stability following secondary rhinoplasty performed with either nasal septal cartilage implantation (G1) or simple alar cartilage suspension and internal fixation (G2) in
Shuxia Dong, Yulang Xu, Ni Zeng, Chenghao Li, Yang Li, Yan Wang, Bing Shi, Qian Zheng   +7 more
doaj   +1 more source

Lip symmetry following rotation advancement cleft lip repair in 5-year-old children treated by Ralph Millard and Ron Pigott

JPRAS Open, 2022
Objective: To compare the symmetry of the lip following Rotation-Advancement cleft lip repair by Millard and Pigott and to investigate the effect on the symmetry of cleft side and gender by using different surgical protocols.
F. Maggiulli, C. Hinton, L. Simpson, S. Gujral, J. Hardwicke, R. Slator, R.W. Pigott, T.L. Su, B. Richard   +8 more
doaj  

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

Plastic and Reconstructive Surgery, Global Open, 2018
Background:. Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia.
Adi Rachmiel, DMD, PhD, Shahar Turgeman, DMD, Omri Emodi, DMD, Dror Aizenbud, DMD, Dekel Shilo, DMD, PhD   +4 more
doaj   +1 more source