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395 Possible Causes for Hypertelorism, Rarely Malignant, Recurrent Respiratory Infections

  • 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 early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[ncbi.nlm.nih.gov] respiratory infections (obstructive airway diseases) X Heart disease- enlarged heart valves X 33. 33 Picture showing: skeletal abnormalities left (scoliosis of spine with[slideshare.net]

  • 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] Leukemia, thyroid diseases, autoimmune disorders, epilepsy, intestinal obstruction, and increased susceptibility to infections (including recurrent respiratory infections)[emedicine.medscape.com]

  • Primary Immune Deficiency Disorder

    […] diseases which may be accompanied by autoimmune disease, allergy, incidence of malignancy, GI abnormalities Incidence IgA deficiency 1:500, agammagobulinemia 1:50,000, severe[medical-dictionary.thefreedictionary.com] […] disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hand contractures-genital anomalies syndrome Intellectual disability-short stature-hypertelorism[orpha.net] Coexistence of (Partial) Immune Defects and Risk of Recurrent Respiratory Infections. Clin Chem 2007 ; 53 : 124 -130.[clinchem.aaccjnls.org]

  • Cystic Fibrosis

    Osteonecrosis of the jaw has been associated with high‐dose intravenous bisphosphonate therapy in patients with malignancy ( Pendrys 2008 ).[doi.org] We present the case of a 17-month-old Caucasian patient with CF who presented with hypertelorism causing cycloplegic astigmatism, right-sided mucoid discharge, snoring and[ncbi.nlm.nih.gov] respiratory infections.[ncbi.nlm.nih.gov]

  • 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] 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] An 11-month-old male infant with Saethre-Chotzen syndrome and recurrent respiratory infections is described.[ncbi.nlm.nih.gov]

  • Scimitar Syndrome

    Malignant degeneration of LPD to a leiomyosarcoma has been reported but is rare.[atlasgeneticsoncology.org] Rarely, the disease may manifest with a small shunt, a cardiac murmur, and recurrent respiratory infections in children and adults.[orpha.net] A two-year-old girl was referred for workup after recurrent respiratory tract infections.[ijri.org]

  • Craniorhiny

    However, pleural metastases of soft tissue sarcoma that constitute less than 1% of adult solid malignancy are extremely rare.[biomedsearch.com] The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum.[unboundmedicine.com] […] tract infection Alopecia Recurrent respiratory infections Optic atrophy Mixed hearing impairment Small face Acrania Tracheal atresia Dolichocephaly Neurological speech impairment[mendelian.co]

  • Tracheobronchomegaly

    Infection, hemorrhage, and, in rare cases, malignancy can occur. Respiratory distress may result in a stridor or wheeze.[funomtheophilusmakama.blogspot.com] […] syndrome Craniofacial dysostosis with diaphyseal hyperplasia Cervical hypertrichosis peripheral neuropathy Neuronal ceroid lipofuscinosis 3 Osteogenesis imperfecta type I Hypertelorism[checkrare.com] A 4-year-old girl suffered from dyspnea, recurrent respiratory infections and joint pain.[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] […] 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] Recurrent episodes of lower respiratory tract infections (LRTIs) are a rare complication of muscular hypotonia in patients with Sotos syndrome.[ncbi.nlm.nih.gov]

  • Acrocallosal 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] […] moderate to severe mental retardation, hypotonia, agenesis of the corpus callosum and preaxial polydactyly involving both feet and the facial features like broad forehead and hypertelorism[ncbi.nlm.nih.gov] Respiratory complications could occur and upper respiratory tract infections and sinopulmonary disease are common.[centogene.com]

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