Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …

The RASopathies are a group of disorders due to pathogenic variants in genes involved in
the Ras/MAPK pathway, many of which have overlap** clinical features (eg …

(1) Background. Scoliosis is the most common musculoskeletal manifestation of
Neurofibromatosis type 1 (NF1), and it might be dystrophic (D) or non-dystrophic (ND) …

Background Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong
to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due …

Since low-back pain is increasing in ageing populations, current research efforts are
focused on obtaining a better understanding of the pathophysiology of intervertebral disc …

ABSTRACT Musculocontractural Ehlers-Danlos syndrome (mcEDS) is caused by
generalized depletion of dermatan sulfate (DS) due to biallelic pathogenic variants in …

Scoliosis is a common manifestation of neurofibromatosis type 1, causing significant
morbidity. The etiology of dystrophic scoliosis in neurofibromatosis type 1 is not fully …

Objectives Scoliosis is a common orthopedic problem in patients with neurofibromatosis 1
(NF1). Spinal deformities are found in 77% of all NF1 cases, with no widely accepted …

Structured abstract Background Neurofibromatosis type 1 (NF1) gives rise to a variety of
spinal pathologies that include dural ectasia (DE), vertebral malalignments (VMA), spinal …

Aims and background: Charcot's neuroarthropathy (CN) affecting the midfoot leads to
fractures and dislocation of the tarsal bones and displaced predominantly to the plantar …