[Situs inversus of the fibula: medialized fibula].

Congenital extremity anomalies are caused by pathological changes during the development process of the embryo. Exposure to toxins during 4-12 weeks of pregnancy may lead to extremity anomalies. In this article, we present a girl patient born as one of triplets at the 31st week and fifth day of pregnancy with meningomyelocele, Arnold-Chiari type 2 malformation, developmental dysplasia of the right hip, hypothyroidism, and lower extremity anomaly. Mother had a history of antenatal usage of sodium valproate. Radiographic examination of the lower extremity showed medial location of the fibula

A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome

In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease

Addressing the need for patient-friendly medical communications:adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA

BACKGROUND: Patients are the most important stakeholders in the care of any disease and have an educational need to learn about their condition and the treatment they should receive. Considering this need for patient-focused materials, we present a directed approach for mucopolysaccharidosis (MPS) VI and MPS IVA, a pair of rare, inherited diseases that affects multiple organs and parts of the body. Independent guidelines on the treatment of these diseases were recently published, providing evidence- and expertise-driven recommendations to optimize patient management. However, while healthcare providers may have the training and knowledge to understand these guidelines, patients and their caregivers can find the technical content challenging. Hence, we aimed to develop plain language summaries (PLS) of the MPS VI and MPS IVA guidelines with patients as the primary audience. RESULTS: A review of the guidelines by an expert team identified six domains of information relevant to patients: The multidisciplinary team, regular tests and check-ups, disease-modifying and supportive treatments, general anesthetics, ear-nose-throat/respiratory care, and surgeries. This information was adapted into a series of infographics specific to either MPS VI or MPS IVA, designed to appeal to patients and clearly present information in a concise manner. CONCLUSIONS: The use of patient-friendly materials, like the infographics we have developed, has the potential to better inform patients and engage them in their care. We issue a “call to arms” to the medical community for the development of similar PLS materials in rare diseases intended to inform and empower patients