Results 51 to 60 of about 607,006 (296)

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

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

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

A Case with Microphthalmia and Multiple Congenital Anomalies

, 2013
We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital ...
Ayça Sarı, Olgu Hallıoğlu Kılınç, Erdem Dinç   +2 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

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

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects

Children
This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS).
Francesca Gorini, Alessio Coi, Anna Pierini, Nadia Assanta, Antonio Bottoni, Michele Santoro   +5 more
doaj   +1 more source

Congenital Anomalies of the Breast [PDF]

Seminars in Plastic Surgery, 2013
Poland syndrome is a combination of chest wall deformity and absent or hypoplastic pectoralis muscle and breast associated with shortening and brachysyndactyly of the upper limb. Clinical presentation varies widely; therefore, reconstructive procedures have to be adapted to the deformity, ranging from chest wall stabilization or augmentation, dynamic ...
Louise, Caouette-Laberge, Daniel, Borsuk
openaire   +2 more sources

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source