Results 31 to 40 of about 103,828 (259)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

Health Promotion and Chronic Disease Prevention in Canada, 2015
Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those
S. Liu, J. Rouleau, J. A. León, R. Sauve, K. S. Joseph, J. G. Ray, Canadian Perinatal Surveillance System   +6 more
doaj   +1 more source

Relationship between birth weight to placental weight ratio and major congenital anomalies in Japan. [PDF]

PLoS ONE, 2018
Recent studies have indicated that birth weight to placental weight (BW/PW) ratio is related to perinatal outcomes, but the effect of congenital abnormalities on BW/PW ratio remains unclear. We performed this study to elucidate correlations between BW/PW
Ryuichi Takemoto, Ai Anami, Hiroshi Koga
doaj   +1 more source

Intervention challenges in patients with congenital heart disease with coexisting interruption of the inferior vena cava - A case series

Heart Views, 2021
Interruption of the inferior vena cava with azygos continuation is a rare congenital anomaly. This anomaly becomes clinically important during cardiac interventions.
Saurabhi Das, Mahua Roy, Amitabh Chattopadhya, Debasree Ganguly   +3 more
doaj   +1 more source

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

Closed loop right colon ischemia caused by omphalomesenteric band and Meckle's diverticulum

Journal of Pediatric Surgery Case Reports, 2022
Meckel's diverticulum is the most common congenital anomaly of the gastrointestinal tract. Although intestinal obstruction is the most common complication of this anomaly, cecal volvulus is an extremely rare associated condition.
Samin Khoei, Nooshin Oliaie Rezaei, Hojatollah Raji, Fatemeh Zamani   +3 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

Scrotoschisis: A rare congenital urologic anomaly

Journal of Pediatric Surgery Case Reports, 2018
Background: Scrotoschisis is a rare congenital anomaly of the scrotal wall with idiopathic etiology it represents as congenital extrusion of the testis through the scrotal wall and its pathology is extremely rare.
Mohamed Mahfouz
doaj   +1 more source

Congenital esophageal stenosis caused by tracheobronchial remnants: A case report

Radiology Case Reports, 2023
Congenital esophageal stenosis caused by tracheobronchial remnants is a rare anomaly in infants and children that results in dysphagia and recurrent pneumonia.
Soung Hee Kim, MD
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