Results 31 to 40 of about 128,890 (256)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Orofacial Clefts and Maternal Risk Factors: A Population-Based Case–Control Study

Children
Background/Objectives: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case–control study was to evaluate the association of OFCs with selected maternal characteristics.
Michele Santoro, Lorena Mezzasalma, Alessio Coi, Anna Pierini   +3 more
doaj   +1 more source

Effect of low dose aspirin application during pregnancy on fetal congenital anomalies

BMC Pregnancy and Childbirth, 2022
Background With the extensive use of aspirin in obstetrics and reproductive medicine, concerns of potentially related congenital anomalies have been raised in previous studies.
Si Sun, HongYang Qian, Congcong Li, Qiaohong Wang, Aimin Zhao   +4 more
doaj   +1 more source

Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies

Orphanet Journal of Rare Diseases
Objectives The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastroschisis in offspring.
Silvia Baldacci, Michele Santoro, Lorena Mezzasalma, Anna Pierini, Alessio Coi   +4 more
doaj   +1 more source

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d′Ivoire

African Journal of Paediatric Surgery, 2015
Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d′Ivoire.
Bertin Dibi Kouame, Isabelle Ama N′guetta-Brou, Guy Serge Yapo Kouame, Moufidath Sounkere, Maxime Koffi, Jean Baptiste Yaokreh, Thierry Odehouri-Koudou, Samba Tembely, Gaudens Atafi Dieth, Ossenou Ouattara, Ruffin Dick   +10 more
doaj   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Esophageal ganglioneuromatosis; a rare cause of intractable esophageal stenosis: a case report

BMC Pediatrics
Background Ganglioneuromatosis is a rare type of benign neurogenic tumor that usually affects the sites of the major sympathetic ganglia in the retroperitoneum and the posterior mediastinum.
Mostafa Zain, Mohamed Abdelmalak, Saber Waheeb, Mohamed Mansy, Amir Ibrahim, Bassma El Sabaa   +5 more
doaj   +1 more source

Congenital anomalies among live births in a polluted area. A ten-year retrospective study

BMC Pregnancy and Childbirth, 2012
Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis.
Gianicolo Emilio Antonio Luca, Bruni Antonella, Rosati Enrico, Sabina Saverio, Guarino Roberto, Padolecchia Gabriella, Leo Carlo, Vigotti Maria Angela, Andreassi Maria Grazia, Latini Giuseppe   +9 more
doaj   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source