Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.

Methods: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network.

"Multidisciplinary management of post- infective osteoarthritis and secondary condylar resorption of temporomandibular joint: a case report in a 9 years-old female patient and a review of literature".

Background: Osteoarthritis and condylar resorption of temporomandibular joint (TMJ) has rarely been reported in children as consequence of otologic disease. We describe the management of a case in a 9-year-old female as long-term complication of an otomastoiditis and review the literature currently available on this topic.

Case Presentation: A nine-years-old female patient referred to Emergency Room of Bambino Gesù Children's Research Hospital, IRCCS (Rome,Italy) for an acute pain in the left preauricular area and reduced mandibular movements.

Expanding the spectrum of Gorham Stout disease exploring a single center pediatric case series.

Gorham-Stout Disease (GSD), also named vanishing bone disease, is an ultrarare condition characterized by progressive osteolysis with intraosseous lymphatic vessel proliferation and bone cortical loss. So far, about 300 cases have been reported. It may occur at any age but more commonly affects children and young adults.

Spondylodiscitis in Children: A Retrospective Study and Comparison With Non-vertebral Osteomyelitis.

The aim of this study is to provide new data on pediatrics spondylodiscitis for an optimal clinical management of this site-specific osteomyelitis. We reported 48 cases of pediatric spondylodiscitis and made three comparisons between: (1) tubercular and non-tubercular cases; (2) patients aged more or less than 5 years; (3) children with spondylodiscitis and 62 controls with non-vertebral osteomyelitis. A higher rate of sequelae was reported in patients with tubercular spondylodiscitis, but no significant differences were noted at the cut-off of 5 years of age.