Results 51 to 60 of about 93,387 (264)
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 +13 more
wiley +1 more source
Total energy expenditure in small for gestational age infants. [PDF]
Archives of Disease in Childhood - Fetal and Neonatal Edition, 1996 AIM: To measure total energy expenditure and body composition in small for gestational age (SGA) infants in order to investigate proposed hypermetabolism in such babies. METHODS: A cross sectional study of 52 SGA infants measured at 5 weeks of age was made, using existing data from appropriate for gestational age (AGA) infants as controls.
Davies, P.S.W. +5 more
openaire +10 more sources
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 +7 more
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
BMC Pregnancy and Childbirth, 2019 Background Small for gestational age (SGA) infants are those born small for their gestational age, with weight below the 10th percentile. Not only do SGA infants suffer growth issues after birth, they have elevated risk for the development of metabolic ...
Alexandra D. George +3 more
doaj +1 more source
Annals of Neurology, EarlyView.Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton +4 more
wiley +1 more source
Mode of delivery according to Robson classification and perinatal outcomes in restricted and small for gestational age fetuses [PDF]
Revista Brasileira de Ginecologia e ObstetríciaObjective To evaluate the mode of delivery according to Robson classification (RC) and the perinatal outcomes in fetal growth restriction (FGR) and small for gestational age (SGA) fetuses.
Jaqueline Brandão Mazzola +8 more
doaj +1 more source
Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection
The Anatomical Record, EarlyView.Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson +6 more
wiley +1 more source
BMC Pregnancy and Childbirth, 2020 Background Gestational diabetes mellitus is associated with increased incidence of adverse perinatal outcomes including newborns large for gestational age, macrosomia, preeclampsia, polyhydramnios, stillbirth, and neonatal morbidity.
Juan Jesús Fernández-Alba +7 more
doaj +1 more source