Results 41 to 50 of about 265,498 (210)

Unilateral Phrenic Nerve Palsy in Infants with Congenital Zika Syndrome

Emerging Infectious Diseases, 2018
Since the first identification of neonatal microcephaly cases associated with congenital Zika virus infection in Brazil in 2015, a distinctive constellation of clinical features of congenital Zika syndrome has been described.
Nipunie S. Rajapakse, Kevin Ellsworth, Rachael M. Liesman, Mai Lan Ho, Nancy Henry, Elitza S. Theel, Adam Wallace, Ana Catarina Ishigami Alvino, Luisa Medeiros de Mello, Jucille Meneses   +9 more
doaj   +1 more source

Fetal varicella syndrome: A rare case report and literature review

Clinical Dermatology Review, 2022
Fetal varicella syndrome (FVS) is an extremely rare condition of the newborn, characterized by cutaneous scars, limb defects, ocular, and central nervous system abnormalities. It follows maternal varicella infection during early pregnancy.
Abhishek S Patokar, Aditya R Holani, Swapna Khatu, Nitin Chaudhari, Nachiket Palaskar   +4 more
doaj   +1 more source

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus-1

, 2011
Copyright information:Taken from "Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus"http://www.biomedcentral.com/1471-2350/9/50BMC Medical Genetics 2008;9():50-50.Published online 6 Jun 2008PMCID:PMC2438341.
Sukhy Sahota (93716), Zosia Miedzybrodzka (93719), Amanda Cardy (93714), Guoqing Liu (93712), Linda Sharp (93718), Julie Inglis (93713), Raoul Hennekam (93717), Duncan Shaw (93715)   +7 more
core   +1 more source

Pregnancy and neonatal outcomes after prenatal exposure to dolutegravir: Data from a European cohort collaboration

HIV Medicine, EarlyView.
Abstract Objective We aimed to assess ‘real‐world’ pregnancy and neonatal outcomes following prenatal dolutegravir (DTG) use in a European setting. Methods We conducted a pooled analysis of individual‐patient data from seven observational studies. Pregnancies with DTG exposure any time from the periconception period (≤6 completed gestational weeks ...
Rebecca Sconza, Georgina Fernandes, Virginia Rasi, Heather Bailey, Karoline Aebi‐Popp, Luminita Ene, Marco Floridia, Anna Gamell, Marta Illán Ramos, Helen Peters, Anna Samarina, Giorgia Dalla Valle, Gabija Morkunaite, Carlo Giaquinto, Leigh Ragone, Annemiek de Ruiter, Vani Vannappagari, Claire Thorne, on behalf of the DOLOMITE‐EPPICC Group, Claudia Fortuny, Christian Kahlert, Luis Manuel Prieto Tato, José Tomás Ramos Amador   +22 more
wiley   +1 more source

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus-2

, 2011
Copyright information:Taken from "Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus"http://www.biomedcentral.com/1471-2350/9/50BMC Medical Genetics 2008;9():50-50.Published online 6 Jun 2008PMCID:PMC2438341.
Sukhy Sahota (93716), Zosia Miedzybrodzka (93719), Amanda Cardy (93714), Guoqing Liu (93712), Linda Sharp (93718), Julie Inglis (93713), Raoul Hennekam (93717), Duncan Shaw (93715)   +7 more
core   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, Volume 110, Issue 6, Page 736-741, December 2026.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

The Results of the Early Conservative Orthopedic Treatment in the Congenital Talipes Equinovarus

Applied Medical Informatics, 2011
The treatment concerning the talipes equinovarus has now a protocole that is well established. That is why, for the pediatric orthopedist, the selection of the therapeutical decision so that when the bone reaches maturity the morphology and ...
Dana VASILESCU, Dan COSMA, Mădălina VĂLEANU, Iulian NEGREANU, Dan VASILESCU   +4 more
doaj   +2 more sources

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus-0

, 2011
Copyright information:Taken from "Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus"http://www.biomedcentral.com/1471-2350/9/50BMC Medical Genetics 2008;9():50-50.Published online 6 Jun 2008PMCID:PMC2438341.
Sukhy Sahota (93716), Zosia Miedzybrodzka (93719), Amanda Cardy (93714), Guoqing Liu (93712), Linda Sharp (93718), Julie Inglis (93713), Raoul Hennekam (93717), Duncan Shaw (93715)   +7 more
core   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Congenital diastasis of distal tibiofibular joint. A case report and treatment presentation

Foot & Ankle Surgery: Techniques, Reports & Cases, 2022
Congenital distal tibiofibular diastasis is a rare disorder of unknown etiology, first described in 1972. Purpose of our study is to present a rare case and the treatment plan.
Georgios Paraskevas Chalatsis, MD, MSc, Vasileios Mitrousias, MD, PhD, Athanasios Siouras, MSc, Christos Baltas, MD, Christina Arnaoutoglou, MD, PhD, Nikolaos Rigopoulos, MD, PhD, Konstantinos N. Malizos, MD, PhD   +6 more
doaj   +1 more source