Results 91 to 100 of about 241,099 (281)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Qualitative Assessment of Surgical Repair of Three Types of Unilateral Cleft Lip

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022
Objective: To assess the effect of the three types of unilateral cleft lip (UCL) [cleft lip only, cleft lip and alveolus, and cleft lip alveolus and palate] on the outcome of the repair.
Adekunle M. Adetayo, Abdurazzak Olanrewaju Taiwo, Modupe Olusola Adetayo, Moses A. Akinola, Wasiu Lanre Adeyemo   +4 more
doaj  

First Trimester Ultrasound Screening for Congenital Abnormalities

, 2013
Background: Congenital abnormalities are one of the important contributors to perinatal morbidity and mortality worldwide. The prenatal screening for these conditions is one of the major aims of a good antenatal unit.
Oloyede, OA
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Burden of digestive congenital anomalies among children aged 0–14 years in 204 countries and territories, 1990–2021: results from the Global Burden of Disease Study 2021

BMJ Open
Objectives We aim to delineate the digestive congenital abnormalities burden in children under 14 years old between 1990 and 2021.Design We implemented data from the Global Burden of Disease (GBD) 2021 database to evaluate digestive congenital ...
Jie Luo, Xi Luo, Jun Du, Jinhua Zhao, Deqin Lu, Huajian Gu   +5 more
doaj   +1 more source

Prevalence of congenital abnormalities in Turkish school children

, 1993
PubMedID: 824359119750 school children, ages 6 to 15 years, were examined by the authors of this study. 1,220 (6.18%) had congenital abnormalities. In this group, 4.23% were boys and 1.88% were girls.
Ergören Y., Yücesan S., Kilicaslan S., Tüysüz C., Okur H., Olcay I., Dindar H.   +6 more
core   +1 more source

Az anotiát és microtiát kísérő többszörös fejlődési rendellenességek eloszlása [Distribution of multiple congenital abnormalities including anotia and microtia] [PDF]

, 2011
To evaluate cases with unclassified multiple congenital abnormalities including microtia and anotia as component congenital abnormalities in order to reveal the characteristic pattern of other associated component congenital abnormalities and to make an ...
Bánhidy, Ferenc, Falvai J, Paput, László, László Paput, Judit Falvai, Ferenc Bánhidy, Paput László, Falvai, Judit, Bánhidy Ferenc   +8 more
core   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

The association between of placenta previa and congenital abnormalities: a systematic review and network meta-analysis. [PDF]

BMC Pediatr, 2023
Jenabi E, Bashirian S, Khoshravesh S.
europepmc   +1 more source

Congenital Heart Disease

, 2018
Congenital Heart Disease is a general term for a range of birth defects that affect the normal workings of the heart. It is one of the most common types of birth defect occurring in 1% of live births and affects up to 9 in every 1,000 babies born in the ...

core   +1 more source