Vascular lesions of the head and neck region in children constitute an interesting group of lesions that benefit immensely from imaging techniques. Imaging is essential for identification, characterization, and delineation of the extent of lesion and subsequent follow-up. Infantile hemangiomas, which are vascular tumors with a specific evolution pattern, constitute a large majority of these lesions. On the other hand, there are vascular malformations, which are anomalies of the vascular system, consisting of a range of vascular tissues associated with various flow patterns. When diagnosis is clinically evident, imaging should utilize non-radiation techniques and address the issues necessary for management. Timing and interpretation of imaging methods employed in assessing childhood vascular lesion should also take into consideration the natural history so that imaging is performed to address a specific question. This review highlights the typical appearance of a hemangioma and a group of vascular malformations of the head and neck. For descriptive purpose, an attempt has been made to group lesions into specific subsites, with each one having specific clinical significance. Cases included illustrate the spectrum of the disease ranging from classical form in young children to slightly differing manifestations of the disease in adolescents and adults. The illustrations also provide a novel way of presenting image data using volume-rendering techniques of 3D data. Multi-modality team interaction and management strategies of these complex lesions are also emphasized.

Non-bacterial osteomyelitis may coexist with other autoinflammatory diseases. MRI remains a favorable diagnostic tool and genetic testing may have a limited role in selected cases. Infliximab and canakinumab are associated with variable outcomes, and 6-week or less dosing intervals for both medications may be more effective.

Fat embolism syndrome (FES) is a serious clinical disorder occurring after trauma, orthopedic procedures and rarely in non-traumatic patients. Fat emboli develop in nearly all patients with bone fractures, but they are usually asymptomatic. Small number of patients develop signs and symptoms of various organ system dysfunction due to either mechanical obstruction of capillaries by fat emboli or due to hydrolysis of fat to fatty acids. A triad of lung, brain and skin involvement develop after an asymptomatic period of 24 to 72 hours. This symptom complex is called FES. The incidence reported is up to 30%, but many mild cases may recover unnoticed. Diagnosis of fat embolism is clinical with nonspecific, insensitive diagnostic test results. Treatment of fat embolism syndrome remains supportive and in most cases can be prevented by early fixation of large bone factures. Here we report two cases of traumatic fat embolism, which were diagnosed initially by Gurd's criteria and subsequently confirmed by typical appearance on magnetic resonance imaging (MRI) of the brain in these patients. These patients were successfully treated with supportive management. In conclusion, diagnosis of FES needs high index of suspicion, exclusion of other conditions and use of clinical criteria in combination with imaging. Magnetic resonance imaging of the brain is of great importance in diagnosis and management of these patients.

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Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause.

Hereditary multiple intestinal atresia (HMIA), a presumed autosomal recessive disorder, is an unusual and rare form of recurrent intestinal atresia which can be associated with severe combined immunodeficiency (SCID). The combination of HMIA and SCID is invariably lethal. The authors describe this fatal association in two siblings. The parents are consanguineous and have three other normal healthy children. Both index cases had abnormal antenatal ultrasounds and were symptomatic after birth. The final diagnosis of HMIA with SCID was confirmed in both siblings. They were never able to receive enteral feeds, remained totally dependent on parenteral nutrition, had repeated episodes of sepsis and died after a very difficult neonatal intensive care course. In this article we have reviewed the clinical course and outcome of both cases. The existing literature on multiple intestinal atresia, HMIA and HMIA with immunodeficiency is also reviewed.

Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the ECEL1 gene.

Van Den Ende-Gupta syndrome (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge, and everted lower lip. Patients show normal growth and cognition. We report on three male and three female cases from four consanguineous families, of which three belong to the same highly inbred tribe from Qatar. The phenotype in the patients is remarkably homogeneous. VDEGS has been suggested both to follow an autosomal recessive and autosomal dominant pattern of inheritance, but our observations suggest an autosomal recessive pattern of inheritance, although genetic heterogeneity cannot be excluded.