Results 41 to 50 of about 9,047 (211)
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
Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +1 more source
Prenatal Diagnosis, Volume 46, Issue 4, Page 581-588, April 2026.ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau +10 more
wiley +1 more source
Plagiocephaly and head binding [PDF]
Archives of Disease in Childhood, 2002 Orthotic devices do not improve plagiocephaly The practice of head deformation by pressure to an infant's skull dates back to 2000 bc when the Ancient Egyptians used head binding to produce a cosmetically pleasing and fashionable skull shape.1 With an increasing incidence of plagiocephaly (asymmetric skull) this practice, with a modern slant, is re ...
S J, Bridges, T L, Chambers, I K, Pople
openaire +2 more sources
Maternal Height and Infant Body Mass Index Are Possible Risk Factors for Developmental Dysplasia of the Hip in Female Infants [PDF]
, 2015 Developmental dysplasia of the hip (DDH) is a wide-spectrum disease with a multifactorial etiology and, despite its prevalence, no definitive etiology has yet been established.
Atalar, Hakan +5 more
core +1 more source
Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 642-652, March 2026.ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää +14 more
wiley +1 more source
A Systematic Review of Positional Plagiocephaly Prevention Methods for Patients in Development
Applied Sciences, 2022 Positional plagiocephaly is an asymmetrical skull deformation caused by various factors. Although it is not responsible for abnormal brain development in infants and is not related to the onset of neurophysiological problems, it is critical to prevent ...
Alessio Danilo Inchingolo +31 more
doaj +1 more source
Die Wirkung von Physiotherapie bei lagebedingtem Plagiozephalus [PDF]
, 2019 Physiotherapeuten /-innen mit pädiatrischem Schwerpunkt begegnen seit der «back to sleep»-Kampagne häufiger Säuglingen mit der Diagnose «lagebedingte Plagiozephalie».
Prinz, Chantal, Zimmermann, Petra
core +1 more source
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss +10 more
wiley +1 more source
JPRAS Open, 2023 Summary: This study evaluated the stability of bilateral sagittal split ramus osteotomy (BSSRO) associated with positional plagiocephaly and temporal and masseter muscles using posteroanterior cephalogram analysis and three-dimensional computed ...
S. Hasegawa +8 more
doaj +1 more source