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892 Possible Causes for Hypertelorism, Pediatric Disorder, Rarely Malignant

  • 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] As previously reported, 6 carrier females often show minor dysmorphic features such as hypertelorism and widow's peak.[doi.org] Aarskog Syndrome Pediatric Database (PEDBASE), 2007 An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies.[ibis-birthdefects.org]

  • Noonan Syndrome

    NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.[ncbi.nlm.nih.gov] Craniofacial anomalies in affected patients include hypertelorism and severe open bite associated with masticatory dysfunction.[ncbi.nlm.nih.gov] NS is one of the RASopathies, which are a class of pediatric disorders associated with genes that are members of the mitogen-activated protein kinase (Ras/ MAPK ) pathway.[invitae.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] The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center.[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 mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 Suppl):S27-34. Review.[ghr.nlm.nih.gov] Adv Pediatr 33:269–302, 1986. PubMed Google Scholar 17. Muenzer J: The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.[link.springer.com]

  • Down 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] Author information 1 Specialized Medical Center, Department of Pediatric Respiratory Medicine, Sleep Disorders Center, Box 84350, Riyadh 11671, Saudi Arabia.[ncbi.nlm.nih.gov] Christensen, An Instructive Case of Transient Myeloproliferative Disorder, Clinical Pediatrics, 10.1177/0009922816662460, 56, 3, (288-289), (2016).[doi.org]

  • Olfactory Neuroblastoma

    Olfactory neuroblastoma (Esthesioneuroblastoma) is a rare malignant tumour arising from olfactory epithelium.[ncbi.nlm.nih.gov] Directed by Genetic Testing in Treating Pediatric Patients with Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders) : NCI-COG Pediatric[es.oncolink.org] Olfactory neuroblastoma is a rare, malignant neoplasm arising from the olfactory epithelium.[ncbi.nlm.nih.gov]

  • Encephalocele

    Both benign and malignant neoplasms are found in this category.Despite the complicated development of the nose, congenital anomalies are rare, with an incidence of one in[clinicaladvisor.com] […] rather than true orbital hypertelorism and the presence of secondary trigonocephaly), careful planning of the bone movements to correct these deformities, and attention to[ncbi.nlm.nih.gov] Neurology : Our team includes more than a dozen pediatric neurologists who provide care to children and teens with neurological disorders.[choa.org]

  • Fraser Syndrome

    , as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.[jasn.asnjournals.org] Inc Full Title: A Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT administered in conjunction with intravenous Elaprase in Pediatric[clinicaltrialsregister.eu] Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs.[ncbi.nlm.nih.gov]

  • King Syndrome

    Exercise-induced heat stress rarely precipitates malignant hyperthermia.[disorders.eyes.arizona.edu] "Nature of auditory processing disorder in children". Pediatrics. 126 (2): e382–390. doi : 10.1542/peds.2009-2826. PMID 20660546.[en.wikipedia.org] Note the dysmorphic changes: ptosis, down-slanting palpebral fissures, hypertelorism, malar hypoplasia and micrognathia. (Photo authorized by the legal responsible).[zdoc.site]

  • Nevus Sebaceous

    Sebaceous carcinoma is a rare malignant tumor that is differentiated from the epithelium lining of the sebaceous gland [ 2 ].[ncbi.nlm.nih.gov] Author information 1 Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.[ncbi.nlm.nih.gov] […] choroid and retina (2 of 4), nonparalytic strabismus (2 of 4), scleral ectasia (1 of 4), partial oculomotor palsy with ptosis and anisocoria (1 of 4), microphthalmia (1 of 4), hypertelorism[ncbi.nlm.nih.gov]

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