Results 111 to 120 of about 349,129 (310)

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

The comparison of perinatal clinical characteristics between severe small for gestational age and mild small for gestational age according to the latest birth curve in ChinaAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: Small for gestational age(SGA) is associated with increased risks of short-term complications and neonatal death.The severity of SGA can be grouped according to the weight of newborns.
Yongbing Guo, PhD, Huijing Zhang, PhD, Jinling Kang, MD, Yu Sun, PhD, Huixia Yang, PhD   +4 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Birth weight classification in gestational diabetes: is there an ideal chart?

Clinical and Biomedical Research, 2017
Introduction: Gestational diabetes mellitus (GDM) is associated to increased rates of large for gestational age newborns and macrosomia. Several charts are used to classify birth weight.
Livia Silveira Mastella, Letícia Schwertz Weinert, Vanessa Gnielka, Vânia Naomi Hirakata, Maria Lúcia Rocha Oppermann, Sandra Pinho Silveiro, Angela Jacob Reichelt   +6 more
doaj   +2 more sources

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

Small for gestational age babies and depressive symptoms of mothers during pregnancy: Results from a birth cohort in India

, 2019
Background: Annually, more than a million Low birthweight (LBW) are born in India, often afflicting disadvantaged families. Several studies have undertaken association of poverty, nutritional status, and obstetric factors with LBW.
Babu, Giridhara R, Deepa, R., Babu, Giridhara R., Rathnaiah, Mohanbabu, Murthy, GVS, Yamuna, A, Reddy, Yogesh, Yamuna, A., Prafulla, S., Prafulla, S, Kinra, Sanjay, Murthy, G.V.S., Lobo, Eunice, Deepa, R, Krishnan, Anjaly   +14 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Application of 4 birthweight curves and local reference range at a University Hospital of Rio de Janeiro, BrazilAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: Numerous fetal growth curves have been developed from various subpopulations and geographic locations worldwide. OBJECTIVE: To determine the birthweight standard at the Maternity School and compare it to currently used standards in the ...
Fabio G. Da Matta, MD, MSc, Karina Bilda de Castro Rezende, MD, PhD, Maria Isabel M.P. Cardoso, MD, MSc, Luiza P. Ladeira, MD, Rita G. Bornia, MD, PhD, Joffre Amim, Jr., MD, PhD   +5 more
doaj   +1 more source

Reassessing the WIC Effect: Evidence from the Pregnancy Nutrition Surveillance System [PDF]

Recent analyses differ on how effective the Special Supplemental Nutrition Program for Women, Infants and Children (WIC) is at improving infant health.
Andrew D. Racine, Cristina Yunzal-Butler
core  

Symphysis-fundal height to identify large-for-gestational-age and macrosomia: a meta-analysis

, 2019
Bivariate diagnostic meta-analysis was performed to evaluate the diagnostic value of symphysis-fundal height (SFH) for identifying large-for-gestational- age (LGA) (i.e. birth weight >90th centile according to gestational age) and macrosomia (i.e.
Eita Goto (8101688)
core   +1 more source