Results 61 to 70 of about 192,038 (306)

Epidemiological pattern of cleft lip and palate under Rashtriya Bal Swasthya Karyakram project in the state of Bihar: A cross-sectional hospital-based study

Journal of Family Medicine and Primary Care
Purpose: There is a paucity of literature on the incidence and distribution of cleft lip and palate cases in the population of Bihar leading to an unmeasured gap in the status of cleft patients in this part of the country.
Shria Datta, Veena Kumari Singh
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Premaxillary Reconstruction by Distraction Osteogenesis for Cleft Lip/Palate [PDF]

, 2006
Patients with cleft lip and palate usually present midfacial depression and anterior cross-bite. This dentofacial deformity has been believed due to the undergrowth of maxilla and/or the collapse of premaxilla.
정영수, 유형석, 이충국, 이상휘   +3 more
core  

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

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 High Fidelity Cleft Lip Simulator

Plastic and Reconstructive Surgery, Global Open, 2018
Background:. Cleft lip surgery is technically difficult requiring precise planning and understanding of 3-dimensional structures to obtain an optimal outcome.
Dale J. Podolsky, MD, PhD, Karen W. Wong Riff, MD, MSc, James M. Drake, MD, MSc, Christopher R. Forrest, MD, MSc, David M. Fisher, FRCSC, FACS   +4 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

Oral Health İn Cleft Lip And Alveolus

, 2004
Cleft lip and palate is one of the most common congenital deformities. Patients who have clefts of the lip and palate often need complex and extensive treatment, usually provided by an interdisciplinary team of pediatrists, orthodontists, plastic ...
S. Burçak Cengiz, Ayhan Enacar, Defne Keçik, Meryem Tekçiçek   +3 more
core   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source