Results 31 to 40 of about 118,515 (256)

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   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Comparative evaluation of the pharyngeal airways and related soft tissues of unilateral and bilateral cleft lip and palate patients with the noncleft individuals

, 2017
Aim: This study is a comparison of pharyngeal airways and associated soft tissues of unilateral and bilateral cleft lip and palate patients with the noncleft individuals. Materials and Methods: Twenty-four unilateral cleft lip and palate patients (UCLP),
Dogan S., Dogan, Servet, Aras I., Aras, Isil   +3 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

A report of 2 patients with transient blindness following Le Fort I osteotomy and a review of past reported cases

Indian Journal of Plastic Surgery, 2015
Blindness following a LeFort I osteotomy is a rare but extremely serious complication. Ten cases have been reported to date. None of these patients recovered vision.
Philip Mathew, Hirji Sorab Adenwalla, Puthucode V Narayanan, Emily Nyamu   +3 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population

, 2015
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Objective: Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate.
de Barros, LM, Martelli, H, Coletta, RD, Paranaiba, LMR, Swerts, MSO, Quintino, RP   +5 more
core   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Cleft types, lower-lip pits, and lip pit surgeries in individuals with Van der Woude syndrome in Finland

Journal of Plastic Surgery and Hand Surgery
Background: Van der Woude syndrome (VWS) may display varied clinical features. We aimed to determine cleft types, lower lip pits, and lip pit surgeries in a large VWS cohort in Finland.
Emma Juuri, Charlotta Gustafsson-Silén, Arja Heliövaara   +2 more
doaj   +1 more source

The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese

Brazilian Journal of Otorhinolaryngology, 2021
Introduction: Non-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors.
Qian Wang, Sichao Sun, Qinggao Song, Huan Hu, Jiaxing An, Jianguo Liu   +5 more
doaj   +1 more source