Results 41 to 50 of about 153,604 (308)

Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach

, 2016
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McPherson, DB, Ma, Lian, McPherson, Bradley, Ma, Xiaoran, MA, X, Ma, L   +5 more
core   +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

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

Dynamic changes in nasal symmetry after presurgical nasoalveolar molding in infants with complete unilateral cleft lip and palate

African Journal of Paediatric Surgery, 2020
Background: Presurgical nasoalveolar molding (PNAM) technique gave a new perspective to presurgical infant orthopedics. Nasal reconstruction presents a challenge for the plastic surgeons in case of patients with unilateral cleft lip and palate (UCLP ...
Seema Thakur, Anjali Singh, Vijay Kumar Diwana, Alka Rani, Narbir Singh Thakur   +4 more
doaj   +1 more source

Acute Liver Failure and Hepatic Encephalopathy After Cleft Palate Repair

, 2015
Paracetamol is the most commonly used analgesic after cleft palate repair. It has rarely caused acute hepatic failure at therapeutic or supratherapeutic doses.
TUTAR, ENGİN, DURMUŞ KOCAASLAN, FATMA NİHAL, ÇELEBİLER, ÖZHAN BEKİR   +2 more
core   +1 more source

Prevalence of Reading Difficulties in 9-to 10-Year Old Children in Sweden Born With Cleft Palate

, 2022
Objective: To investigate the prevalence of reading difficulties in children born with cleft palate at ages 9 and 10 in Sweden. Design: Using a cross-sectional design, a parental questionnaire assessing dyslexia-like reading difficulties (Short Dyslexia ...
Persson, Christina,, Justin, Parry Weinfeld,, Åsberg Johnels, Jakob,   +2 more
core   +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

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

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