Results 181 to 190 of about 81,200 (264)

Incidence and risk factors for neonatal jaundice in a teaching hospital in Northern Ghana. [PDF]

BMC Pediatr
Donkor DR, Ziblim SD, Asumah MN, Dzantor EK, Abdul-Mumin A.   +4 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Impending Airway Threat in a Neonate: Intralesional Sclerotherapy As Salvage Therapy for Giant Congenital Cervical Cystic Hygroma. [PDF]

Cureus
Saleem MM, Rehman H, Shamim H, Mazhar I, Wasim A, Rai M, Azam F, Ahmed M, Ullah F.   +8 more
europepmc   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Acute Generalized Exanthematous Pustulosis in a Neonate Following Hepatitis B Vaccination: A Case Report. [PDF]

Sage Open Pediatr
Cao TV, Ha TM, Nguyen ATV, Nguyen KV.
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

An Unusual Case of Situs Inversus in a Premature Neonate. [PDF]

Cureus
Elazar N, Castronovo MG, Spencer-Morales EM.   +2 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source