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279 Possible Causes for Blepharoptosis, Hypertelorism, Rarely Malignant

  • Saethre-Chotzen Syndrome

    This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related[ncbi.nlm.nih.gov] Her father had only blepharoptosis; this was the clue to the diagnosis, which was confirmed by finding a deletion in the TWIST gene.[ncbi.nlm.nih.gov] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com]

  • Turner Syndrome

    Patients with TS have a higher risk of developing cancer, although multiple malignant tumors are extremely rare.[ncbi.nlm.nih.gov] […] 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] However, in females with TS and no Y chromosomal material, this is rarely seen.[ncbi.nlm.nih.gov]

  • 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] Ophthalmic findings include a slight downward slant to the palpebral fissures, hypertelorism, blepharoptosis, strabismus, ophthalmoplegia, hypermetropic astigmatism and a[ncbi.nlm.nih.gov] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org]

  • Blepharophimosis

    Malignant hyperthermia is a rare complication but associated with musculoskeletal ocular surgery such as ptosis surgery.[nature.com] All the patients had bilateral severe blepharoptosis, epicanthus inversus, and flat dorsum nasi.[ncbi.nlm.nih.gov] We report a 21-year-old male with double upper and lower lip, hypertelorism, unilateral ptosis, blepharophimosis, and broad nose with broad nasal tip, highly arched palate[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Eyelid abnormalities such as ocular hypertelorism and blepharoptosis are the most commonly observed eye complications.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    Cases of malignant hyperthermia without administration of triggering anesthetic agent have been described: it seems that these rare cases combine a mutation of the RyR1 gene[sites.uclouvain.be] Clinical Characteristics Ocular Features: A large number of ocular anomalies have been found in SLO syndrome but the most common is blepharoptosis of some degree.[disorders.eyes.arizona.edu] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov]

  • Ptosis

    […] tumor In rare instances, ptosis can occur due to a brain tumor or other malignancy that affects the reactions of muscles or nerves.[cincinnatieye.com] BACKGROUND: Involutional blepharoptosis is the most common type of acquired blepharoptosis.[ncbi.nlm.nih.gov] […] bilateral congenital ptosis associated with telecanthus, epicanthus inversus, hypoplasia of the superior orbital rims, horizontal shortening of the eyelids, ear deformities, hypertelorism[kjophthal.com]

  • Multiple Sclerosis

    It is called malignant multiple sclerosis and involves rapid progression and very intense symptoms. This subtype is in most cases deadly.[disabled-world.com] Additionally, he had hypertelorism, a wide forehead and flattening of mid-face.[ncbi.nlm.nih.gov] […] pregnancy has been reported with a very uncommon and characteristic pattern of congenital anomalies, including abnormal head shape, large fontanelles, craniosynostosis, ocular hypertelorism[oadoi.org]

  • Platybasia

    Osteosarcoma is a rare complication, but it should be suspected in patients who have a sudden increase in bone pain or swelling. [24] Pagetic sarcoma is malignant, and the[emedicine.medscape.com] Convert to ICD-10-CM : 756.0 converts approximately to: 2015/16 ICD-10-CM Q75.0 Craniosynostosis Or: 2015/16 ICD-10-CM Q75.2 Hypertelorism Or: 2015/16 ICD-10-CM Q75.9 Congenital[icd9data.com] ) 756.0 Hallermann-Streiff syndrome 756.0 Hemihypertrophy (congenital) 759.89 cranial 756.0 Hyperostosis 733.99 Hypertelorism 756.0 Hypoplasia, hypoplasis 759.89 skull (bone[icd9data.com]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    […] prognosis with respect to malign lesions, more frequently encountered in this area.[nature.com] Blepharoptosis myopia ectopia lentis 0 *Blepharoptosis *Ectopia Lentis *Myopia.[reference.md] Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present.[mendelian.co]

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