Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare autosomal dominant disorder in which there is a progressive ectopic ossification and skeletal malformation, mainly in the connective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. We report a 5 year-old female case with FOP.

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of th...

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

hyper - immunoglobulin e syndrome is a rare primary immunodeficiency disease characterized by recurrent abscess formation, respiratory tract infections and very high titers of serum ige associated with peculiar face and skeletal features. we report a seven-year old  girl  presenting with persistent productive cough and  history of chronic eczematoid facial lesions since infancy  and  two episod...

cornelia de lange syndrome (cdls) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. the diagnosis of this syndrome is clinical. the patient of the present case report was the second case of cdls from iran ; only a few ca...

Multimodal cancer therapy for pediatric head and neck tumors may be associated with significant developmental orofacial morbidity. This report details these effects in a child (C.I.) diagnosed at 2.5 years of age with a rhabdomyosarcoma, primary to the left buccinator. This case is of interest as C.I. has an unaffected identical twin (D.I.) for comparative study. Both were assessed by comparing...

Observations of skeletal malformations in fish the wild are poorly documented and need to be investigated. Here we report occurrence body shortening specimens Plagioscion squamosissimus collected Volta Grande do Xingu, middle Xingu River region (Pará, Brazil), during a 12-month monitoring program (2021–2022). We observed morphological anomalies nine individuals, which two underwent radiographic...

This case is described of an eleven-month-old infant with lower limbs swelling and the left elbow skeletal malformation following a fall. The radionuclide bone scan was performed to exclude bone infection or congenital skeletal anomaly. The images unexpectedly showed multiple increased radioactive foci throughout the whole body. It was a strong probability of child abuse. All lesions are readil...

Skeletal Class III malocclusion is a complex malformation with prevalence of 81.6% in Airlangga University Dental Hospital, distributed patients aged 15-45 years old. Camouflage treatment skeletal improves prognosis mild-to-moderate shift.This study aimed to discuss orthodontic camouflage as an option for adult malocclusion,emphasizing its indications, implications, and expected results.This re...