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838 Possible Causes for Hypertelorism, Rarely Malignant, Scoliosis

  • Neurofibromatosis Type 1

    Plexiform neurofibromas- tumors along nerve bundle tracts, can be large and usually appear at birth or early in childhood (occur in 25%) Malignant peripheral nerve sheath[en.wikibooks.org] General information about patients was recorded, as were preoperative and postoperative scores from Scoliosis Research Society (SRS)-22 questionnaires.[ncbi.nlm.nih.gov] NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.[genome.ucsc.edu]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[ncbi.nlm.nih.gov] Scoliosis The incidence of scoliosis in TS patients was 0.69%, compared with 0.39% among non-TS patients.[doi.org] […] encountered findings were growth delay (98.8%), shortening of the 4 th and 5 th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Because of the slow progressive nature of this disease and its atypical symptoms, the misdiagnosis of MPS IIIB is not rare in clinical practice.[ncbi.nlm.nih.gov] 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]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Scoliosis and kyphosis occur in about 15% of patients, mainly associated with SOS1 mutations, as it was in our case with severe double curved scoliosis.[bone-abstracts.org] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas.[ncbi.nlm.nih.gov] This retrospective study reviewed five patients with scoliosis associated with cerebral gigantism (Sotos syndrome).[ncbi.nlm.nih.gov] […] overgrowth, developmental delay, advanced bone age, and a typical facial gestalt including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism[ncbi.nlm.nih.gov]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] scoliosis in one case.[omicsonline.org] Other associated features include ocular hypertelorism, nuchal edema or cystic neck masses, loose skin, decreased muscle mass and hypoplastic lungs.[fetalultrasound.com]

  • Gorlin Syndrome

    Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case.[ncbi.nlm.nih.gov] The main features observed in patients with GS are basal cell carcinomas, odontogenic keratocysts, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar[ncbi.nlm.nih.gov] Because of macrocrania, hypertelorism and epidermal punctiform lesions in the palm of the hand, Gorlin syndrome was clinically suspected and molecularly confirmed by finding[ncbi.nlm.nih.gov]

  • Spondylocarpotarsal Synostosis

    Malignancy is defined by presence of metastases that arise in sites devoid of chromaffin tissue such as bone. Malignant PGLs are extremely rare. Case presentation.[ccmbm.com] Congenital Scoliosis.[dovemed.com] […] recessive disorder (OMIM:272460) characterised by: short stature; vertebral, carpal and tarsal fusion; joint laxity; congenital inguinal hernias; clubfoot; and peculiar facies (hypertelorism[medical-dictionary.thefreedictionary.com]

  • Dubowitz Syndrome

    Rare reports have described malignant tumors (primarily of hematologic origin), aplastic anemia and immunological deficits (IgA deficiency).[symptoma.com] Patients with Dubowitz syndrome may be at risk of having a progressive, rigid scoliosis.[ncbi.nlm.nih.gov] Fig 2: A 9-year-old boy with Dubowitz syndrome with dental anomalies, hypertelorism, and unilateral ptosis.[healio.com]

  • Aarskog-Scott Syndrome

    Severe Malignant Osteopetrosis November 20, 2018 by Peter Ciszewski Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density[checkrare.com] 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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

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