Akhenaten might have suffered from chronic musculoskeletal pain owing to vitamin D deficiency and osteoporosis secondary to LDS, and sunshine exposure might have relieved his pain. [samj.org.za]

Musculoskeletal complications comprise musculoskeletal pain in two or more limbs, chronic widespread pain, and recurrent joint dislocations or joint instability ( 46 ). [annalscts.com]

Additional minor features include muscle hypotonia, kyphoscoliosis, osteopenia, tissue fragility with atrophic scars, and easy bruising skin ( 46 ). [annalscts.com]

[…] patients with hypovitaminosis D. 16 Exposure to sunlight is the main source of vitamin D, and treatment of vitamin D deficiency with sun exposure has been reported. 17 TGFBR gene polymorphism is associated with bone mineral density and bone turnover, and osteopenia [samj.org.za]

Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation hydrocephalus Cardiovascular aortic dissection aortic dilatation non-aortic aneurysms [radiopaedia.org]

Pes planus Flat feet Flat foot [ more ] 0001763 Uterine rupture 0100718 30%-79% of people have these symptoms Arachnodactyly Long slender fingers Spider fingers [ more ] 0001166 Atypical scarring of skin Atypical scarring 0000987 Bifid uvula 0000193 Blue [rarediseases.info.nih.gov]

On clinical examination, the globes of 11 (44%) patients showed a blue sclera and 7 (28%) patients had exotropia. One patient had a retinal detachment diagnosed on funduscopy and not detected on CT. Facial. [ajnr.org]

Osteopenia/osteoporosis, blue sclerae, hernia, pectus deformity, marfanoid habitus, clubfoot, and refractive errors are also frequently observed and form the minor criteria. In comparison, blue sclerae are also observed in LDS. [annalscts.com]

Translucent skin ( Figure 38-3 ) Easy bruising Dystrophic FIGURE 38-3 Thin, translucent skin with large scars in a patient with Loeys Dietz syndrome (LDS). [accesssurgery.mhmedical.com]

C) Translucent skin with subcutaneous visible veins and flat feet in Patient 2. [ojrd.biomedcentral.com]

skin (when it looks almost see-through) Bones: – club foot (when the foot is turned inward and upward at birth) – poor mineralization of the bones (osteoporosis) that can make the bones mare likely to break) Other: – allergies to food and elements in [marfan.co]

It is characterized by delicate fragile skin with a tendency for organs to rupture or develop aneurysms, life-threatening complications in pregnancy, characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes), acrogeria [ajnr.org]

Skin findings in vEDS include easy bruising and bleeding, atrophic scars, and acrogeria. [annalscts.com]

LSD 2 patients have an isolated bifid uvula but no other facial features, although subtle features such as broad forehead or frontal bossing may exist. [ahajournals.org]

bossing; a high anterior hair line; hypoplastic supraorbital margins; and a myopathic face. 11 4. [samj.org.za]

Other LDS craniofacial features are retrognathia, malar flattening, tall and broad forehead, and frontal bossing with a high anterior hair line. [annalscts.com]

During her stay in the institution, brain magnetic resonance imaging (MRI) was performed, which revealed the presence of two intracranial aneurysms, one located in the carotid artery and one in the vertebral artery, the latter with a wide neck [Figure [ruralneuropractice.com]

Therefore the unusual shape of Akhenaten in statues and paintings of a prominent abdomen and large breasts could be due to ascites and gynaecomastia, which are seen in cirrhosis secondary to right-sided heart failure in the context of LDS; this can be [samj.org.za]

hemorrhage as a complication of vascular dissection. [ncbi.nlm.nih.gov]

One patient had intracranial hemorrhage as a complication of cerebral artery dissection. Fig 1. [ajnr.org]

In addition, neurocognitive features, like developmental delay, headaches, lethargy etc, have also been noted. 2 The non-neuroradiologic features include pectus excavatum or carinatum, hypermobility and dolichostenomelia, camptodactyly (contractures of [ajnr.org]

Right side was more severe, spanning 15 cm cephalocaudally, with maximum diameter of 4.4 cm and significant mural thrombus that narrowed arterial lumen. [ajronline.org]

The study group also found evidence of Plasmodium falciparum infection in the mummies. [samj.org.za]