Results 41 to 50 of about 133,189 (264)

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

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 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

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 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

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

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

PLACENTAL LESIONS RELATED TO MATERNAL VASCULAR MALPERFUSION: A HISTOPATHOLOGICAL REVIEW

The Egyptian Journal of Histology
Background : The placenta is a dynamic organ essential for fetal and maternal health. Among its pathologies, maternal vascular malperfusion (MVM) represents a major cause of adverse pregnancy outcomes, including preeclampsia, intrauterine growth ...
chaimae hilali, sara Aboulaghras, Asmaa Mdaghri Alaoui, Najat Lamalmi, Mounia Yousfi Malki   +4 more
doaj   +1 more source