Results 61 to 70 of about 227,365 (300)

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

Multiple Choriangiomas of Placenta [PDF]

, 2011
Placental chorangiomas, not an uncommon condition is often small and hence usually goes unnoticed . However the incidence of complications is high when the chorangioma is large. We hereby present an unusual case of large and multiple choriangiomas with
Krishnan, Nalini, MG, Abhishek, MU, Thejaswini, S, Vijay Shankar, Shivakumar, Swarna   +4 more
core   +1 more source

Branchial cleft cysts : a pictorial review [PDF]

, 2018
Cystic masses of the neck may represent a wide variety of pathological conditions. Among these, branchial anomalies are the commonest paediatric congenital lesions of the head and neck.

core   +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

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 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

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study. [PDF]

, 2017
The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy.
Addor, M.C., Bakker, M.K., Barisic, I., Bergman, JEH, Cavero-Carbonell, C., Dolk, H., Gans, ROB, Garne, E., Gatt, M., Klungsoyr, K., Lelong, N., Loane, M., Lutke, L.R., Lynch, C., Mokoroa, O., Nelen, V., Neville, A.J., Pierini, A., Randrianaivo, H., Rissmann, A., Tucker, D., Wiesel, A.   +21 more
core   +4 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Total anomalous pulmonary vein drainage in a 60-year-old woman diagnosed in an ECG-gated multidetector computed tomography : a case report and review of literature [PDF]

, 2018
Purpose: Total anomalous pulmonary vein drainage (TAPVD) is a congenital cardiac defect in which there is no connection between pulmonary veins and the left atrium.
Adamczyk, Piotr, Czekajska-Chehab, Elżbieta, Drop, Andrzej, Siek, Elżbieta, Staśkiewicz, Grzegorz, Tomaszewski, Andrzej, Wojtkowska, Agnieszka, Zakościelna, Magdalena   +7 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source