Results 41 to 50 of about 114,004 (304)

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

The FGF and FGFR gene family and risk of cleft lip with or without cleft palate [PDF]

, 2013
Background : Isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology.
지선하
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

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Long-term Outcome of the Management of Otitis Media with Effusion in Children with and Without Cleft Palate Using the House-brand Polyethylene Ventilation Tube Insertion

Siriraj Medical Journal, 2021
Objective: To study the long-term outcome of otitis media with effusion in children with and without cleft palate treated with the same protocol of ventilation tube insertion.
Kitirat Ungkanont , Alisa Tabthong , Chulaluk Komoltri , Amornrut Leelaporn, Vannipa Vathanophas , Archwin Tanphaichitr , Thidarat Wensanthia   +6 more
doaj   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +1 more source

Prevalence of cleft lip and palate in Bauru, SP – concordance among registries of HRAC/USP, DNV and SINASC

Brazilian Dental Science, 2021
Objective: Congenital defects, including cleft lip and palate, increase the morbidity and mortality in the affected population. This study aimed to determine the prevalence of cleft lip and palate in the city of Bauru, Brazil, by evaluation of registry ...
Kelly Fernanda Molena, Vivian Patricia Saldias Vargas Winckler, Gisele da Silva Dalben   +2 more
doaj   +1 more source

Early Dimensional Changes in Maxillary Cleft Size and Arch Dimensions of Children with Cleft Lip and Palate and Cleft Palate

, 2013
Objective To study early changes in cleft size and maxillary arch dimensions and to evaluate these changes in relation to performed surgical procedures. Design Retrospective longitudinal study.
Reiser, Erika,, Erika Reiser, Skoog, Valdemar,, Anna Andlin-Sobocki, Valdemar Skoog, Andlin-Sobocki, Anna,   +5 more
core   +1 more source