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609 Possible Causes for Round Face, Scoliosis

  • Mucopolysaccharidosis

    The patient was a 17-year-old girl with growth retardation, hearing loss, and severe skeletal dysplasia(scoliosis and chicken breast), and was evaluated to have normal nervous[ncbi.nlm.nih.gov] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org]

  • Congenital Muscular Dystrophy

    CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised.[ncbi.nlm.nih.gov] When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis.[ncbi.nlm.nih.gov] KEYWORDS: Fukuyama congenital muscular dystrophy; Scoliosis; Spinal fusion[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    The literature dealing with scoliosis surgery in PWS consists of only few case reports.[ncbi.nlm.nih.gov] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • Mucopolysaccharidosis 2

    Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org] […] visceral enlargement with hepatosplenomegaly (manifested by a protuberant abdomen); skeletal changes with metacarpal and vertebral processes evident on radiographs, and scoliosis[consultant360.com] Anteroposterior and lateral X-rays of the dorsolumbar spine showed anterior beaking at D12 and L1,2,3 with slender long pedicle and scoliosis at dorso lumbar spine with convexity[omicsonline.org]

  • Mucopolysaccharidosis 1

    Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] Bone deformities like kyphosis or gibbus, scoliosis, genu valgum, pes cavus have been described and may cause gait disturbances.[symptoma.com] His past surgical history included a scoliosis correction surgery, bilateral carpal tunnel release and myringotomy.[omicsonline.org]

  • Kniest Dysplasia

    This is often true for spinal deformities such as scoliosis, hip conditions, knee complications and joint stiffness.[chop.edu] Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).[monarchinitiative.org] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

  • Aarskog Syndrome

    0012774 Large earlobe Fleshy earlobe Fleshy earlobes Prominent ear lobes prominent ear lobules [ more ] 0009748 Mild short stature 0003502 Radial deviation of finger 0009466 Scoliosis[rarediseases.info.nih.gov] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov] […] membrane are not closed properly, malfunction of cervical vertebrae such as upper bones fusion, odontoid hypoplasia in which the cervical vertebrae can be misaligned, and scoliosis[news-medical.net]

  • Marfan Syndrome

    Patients typically have associated problems in addition to scoliosis.[scoliosisassociates.com] In 2013, a strange and creepy screen test started making the rounds in Hollywood.[hollywoodreporter.com] Halogravity traction can be a useful tool in the preoperative treatment of scoliosis in patients with Marfan syndrome if applied for 3 weeks.[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    Special consideration is needed in scoliosis surgery, with challenges arising from prone positioning, neurophysiology monitoring, and blood loss.[ncbi.nlm.nih.gov] faces cases of OI type VIII are similar to OI types II or III in appearance and symptoms except for white sclerae Additional forms of OI The following conditions are rare[radiopaedia.org] Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology.[ncbi.nlm.nih.gov]

  • Spondylocarpotarsal Synostosis

    Congenital Scoliosis.[dovemed.com] Individuals with SCT often have affected wrists, ankles, feet, a large forehead, a rounded face, and nostrils that open upward.[diseaseinfosearch.org] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net]

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