Results 61 to 70 of about 20,090 (253)
Bilateral Congenital Dislocation of the Knee with Ipsilateral Developmental Dysplasia of the Hip – Report of Three Patients [PDF]
Congenital dislocation of the knee (CDK) is a very rare condition. Here we report our strategy and results in treatment of three children with CDK. All three patients were treated with conservative method, and only one had underwent a surgical procedure ...
Barbara Gruber +5 more
core +1 more source
Fetal leg posture in uncomplicated breech and cephalic pregnancies [PDF]
Background The objective of our study was to determine differences in prenatal leg posture development between breech and cephalic-born babies. Materials and methods Ten healthy fetuses in breech and ten healthy fetuses in cephalic presentation were ...
A Chan +19 more
core +4 more sources
CDG due to Defective Membrane Transporters: Update
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Purpose. To measure the transverse acetabular ligament (TAL) anteversion in hips with severe deformity, using fluoroscopy–computed tomographic navigation. Methods.
Masahiro Inoue +6 more
doaj +1 more source
Objective: The purpose of this study was to investigate the usefulness of screening ultrasound to detect developmental dysplasia of the hip in infants with risk factors and to assess its socioeconomic impact. Patients and methods: This is a retrospective
Khaled Aly Matrawy, Mohamed Ragab Nouh
doaj +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
Luxación congénita de cadera: nuestra experiencia [PDF]
La luxación congénita de cadera (L.C.C.) representa, aún hoy día, un auténtico problema dentro de la ortopedia infantil por su frecuencia y sobre todo por las secuelas invalidantes que un diagnóstico tardío puede condicionar.
Lopez Vizcaya, F. +1 more
core
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
Update on pediatric hip imaging [PDF]
Hip disorders are common in children. Prompt diagnosis and treatment are important because of the potential complications. Symptoms are frequently nonspecific, and clinical examination can be difficult and unreliable, especially in smaller children ...
Herregods, Nele +3 more
core +2 more sources
Understanding Disease Aetiology and Related Needs Knowledge of Parents of Children With Spina Bifida
ABSTRACT Objective Spina bifida (SB), a birth defect impacting the central nervous system, may disrupt family functioning, elevate risk for psychosocial concerns in family members, and require extensive medical management. Parental knowledge of their child's medical condition supports parents in managing youth health needs, advocating for their child ...
Olivia E. Clark +6 more
wiley +1 more source

