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.

The Pediatric Spine.

The spine, a frequently investigated site in children, has a complex development in relation to both nervous and bone/cartilaginous structures and shows several particular features in children compared with adults. We report the main normal variants and pathologies of the pediatric spine, from the prenatal period to adolescence, focusing on a multimodality imaging approach.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Aymé-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been assessed systematically.

The role of imaging in the skeletal involvement of mucopolysaccharidoses.

This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities in mucopolysaccharidoses (MPS). The advantages and disadvantages of these different imaging tools will be discussed, along with their feasibility in this class of patients. As the musculoskeletal involvement is common to all MPS and is one of the main reasons for seeking medical attention, an increased awareness among paediatricians, rheumatologists, orthopaedists, radiologists, and other musculoskeletal specialists on the possible spectrum of abnormalities observed could facilitate a timely diagnosis, an appropriate severity evaluation, and better management.

MRI assessment of tenosynovitis in children with juvenile idiopathic arthritis: inter- and intra-observer variability.

Background: There is sparse knowledge about grading tenosynovitis using MRI.

Objective: The purpose of this study was to assess the reliability of a tenosynovitis MRI scoring system in juvenile idiopathic arthritis.

Materials And Methods: Children with juvenile idiopathic arthritis and wrist involvement were enrolled in two paediatric centres, from October 2006 to January 2010.

MRI of the wrist in juvenile idiopathic arthritis: proposal of a paediatric synovitis score by a consensus of an international working group. Results of a multicentre reliability study.

Background: MRI is a sensitive tool for the evaluation of synovitis in juvenile idiopathic arthritis (JIA).

Objective: The purpose of this study was to introduce a novel MRI-based score for synovitis in children and to examine its inter- and intraobserver variability in a multi-centre study.

Materials And Methods: Wrist MRI was performed in 76 children with JIA.

MRI assessment of bone marrow in children with juvenile idiopathic arthritis: intra- and inter-observer variability.

Background: Bone marrow oedema (BMO) is included in MRI-based scoring systems of disease activity in adults with rheumatoid arthritis. Similar systems in juvenile idiopathic arthritis (JIA) are lacking.

Objective: To assess the reproducibility in a multi-centre setting of an MRI BMO scoring system in children with JIA.

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients showed mutations in IDH1 predicting p.R132H and p.

A good growth in a child with scurvy.

We report on a 13-month-old boy who experienced pain while mobilising, and had bruising and swelling of the lower limbs. Laboratory examinations revealed anaemia and skeletal x-rays showed irregularity and thickening of the provisional zones of calcification of lower and upper limbs. The boy had been fed with only goat milk, homogenised meat, fruits and vegetables, all of which had been boiled together.

[Role of ultrasonography of the knee in the follow-up of juvenile rheumatoid arthritis].

Juvenile rheumatoid arthritis is a chronic disease, with the synovium as the target tissue. We made 594 US examinations of the knee in 240 children (mean age: 9 years) with juvenile rheumatoid arthritis. All patients underwent at least one US exam and 156 patients underwent many US examinations during 3 years' follow-up.

[Echographic diagnosis of thyroid hemiagenesis].

Thyroid hemiagenesis is a rare anomaly with an uncertain incidence, since some patients have been found in a euthyroid state without abnormalities. Females account for 75% and males account for 25% of the cases, giving a female to male ratio of 3:1. The left lobe is absent in 80% of cases and the right lobe is absent in 20% of cases (a left to right hemiagenesis ratio of 4:1).

[Ultrasonic diagnosis of "hematoma" of the sternocleidomastoid muscle].

Fifty-five patients (38 and 17), whose age ranged 14 to 153 days, with a clinical suspicion of sternocleidomastoid mass, were examined with US. Neck movements were impaired in all patients and 6 of them exhibited no clinically palpable mass. Sternocleidomastoid masses were detected in 50 patients.

[Ultrasonographic aspects of Sinding-Larsen-Johansson disease].

Sinding-Larsen-Johansson disease affects the patellar tendon in its attachment to the patella. It is quite frequent in adolescents, especially in young males practising sporting activities. The diagnosis is mainly clinical.

[Ultrasonographic findings in Osgood-Schlatter disease].

The Osgood-Schlatter disease affects the patellar tendon in its attachment to the tibial tuberosity. It is quite frequent in adolescents, especially in young males practising sports. Its diagnosis is mainly clinical.