Results 41 to 50 of about 8,265 (200)
Plagiocephaly after Neonatal Developmental Dysplasia of the Hip at School Age [PDF]
, 2019 Developmental dysplasia of the hip (DDH) may require early abduction treatment with infants sleeping on their back for the first few months of life.
Heikkinen, Tuomo +11 more
core +2 more sources
The Evolution of the Role of Imaging in the Diagnosis of Craniosynostosis: A Narrative Review
Children, 2021 Craniosynostosis, the premature closure of cranial sutures, is one of the principal causes of pediatric skull deformities. It can cause aesthetic, neurological, acoustic, ophthalmological complications up to real emergencies.
Giovanni Cacciaguerra +7 more
doaj +1 more source
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Assessment of Cranial Deformation Indices by Automatic Smartphone-Based Photogrammetric Modelling
Applied Sciences, 2022 This paper presents research carried out to assess the accuracy of a fully automatic smartphone-based photogrammetric solution (PhotoMeDAS) to obtain a cranial diagnostic based on the 3D head model.
Sergio Baselga +2 more
doaj +1 more source
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
Positional plagiocephaly following ventriculoperitoneal shunting in neonates and infancy – how serious is it? [PDF]
, 2016 Purpose We test the hypothesis that ventriculo-peritoneal (VP) shunt insertion significantly increases contralateral positional plagiocephaly. Methods We reviewed 339 children who had a VP shunt inserted at Birmingham Children’s Hospital between 2006 ...
Chawla, R +19 more
core +2 more sources
The size and shape of the foramen magnum in man
Journal of Craniovertebral Junction and Spine, 2017 Background: The foramen magnum (FM) has garnered broad interest across the disciplines of anthropology, comparative anatomy, evolutionary biology, and clinical sciences.
Matthew J Zdilla +4 more
doaj +1 more source
Clinical Genetics, EarlyView.We describe a girl presenting with structural eye anomalies and a constellation of features suggestive of the mosaic RASopathy EncephaloCranioCutaneous Lipomatosis (ECCL). Tissue‐specific investigations identified a mosaic KRAS variant at a mutational hotspot (p.[Ala146Pro]), prompting appropriate tumour surveillance.
Karthikah Jeganathan +8 more
wiley +1 more source
Diagnostics, 2020 Positional cranial deformities are relatively common conditions, characterized by asymmetry and changes in skull shape. Although three-dimensional (3D) scanning is the gold standard for diagnosing such deformities, it requires expensive laser scanners ...
Cecilia A. Callejas Pastor +5 more
doaj +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.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 +5 more
wiley +1 more source