Myelomeningocele (MMC) is a congenital malformation of the neural tube that occurs in the first weeks of pregnancy. This malformation refers to the caudal non-closure of the neural tube and neural tissue exposure, which lead to neurological problems, such as hydrocephalus, motor disability, genitourinary tract and skeletal abnormalities and mental retardation. Patients with MMC have an acknowle...

Klippel-Feil syndrome is a congenital malformation, the leading component of which violation segmentation cervical vertebral bodies. The can be combined with other skeletal anomalies: skull asymmetry, scoliosis, high shoulder blades, and ribs. Treatment usually symptomatic; indications for surgical treatment are progressive neurological disorders persistent pain syndrome, develop due to instabi...

The effect of the nature and form of supply of dietary lipids on larval development was investigated in European sea bass larvae, by considering the expression of several genes involved in morphogenesis. Fish were fed from 7 to 37 d post-hatch with five isoproteic and isolipidic compound diets incorporating different levels of EPA and DHA provided by phospholipid or neutral lipid. Phospholipid ...

Marine fish larvae undergo major functional and morphological changes during the developmental stages and several factors can interfere with the normal development of larvae and affect fry quality. Skeletal malformations, such as spinal malformation—scoliosis, lordosis, coiled vertebral column-, missing or additional fin rays, bending opercle or jaw malformations, are frequently observed in hat...

Development of the musculoskeletal system requires precise integration of muscles, tendons and bones. The molecular mechanisms involved in the differentiation of each of these tissues have been the focus of significant research; however, much less is known about how these tissues are integrated into a functional unit appropriate for each body position and role. Previous reports have demonstrate...

Background: PIK3CA-Related Overgrowth Spectrum (PROS) is a heterogeneous disorder caused by post-zygotic, mosaic, gain-of-function PIK3CA mutations. Patients with congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and scoliosis/skeletal anomalies (CLOVES), which subset of PROS, are at higher risk for Wilms tumor; these patients often screened abdominal ultrasounds in earl...

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 episodes of h...