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490 Possible Causes for Coarse Facial Features, Recurrent Respiratory Infections

  • Chronic Alcoholism

    The concept of "structural plasticity" has emerged as a potential mechanism in neurodegenerative and psychiatric diseases such as drug abuse, depression, and dementia. Chronic alcoholism is a progressive neurodegenerative disease while the person continues to abuse alcohol, though clinical and imaging studies show[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[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]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Both the children had a history of recurrent respiratory infections and intermittent joint pain since early childhood.[mjdrdypu.org] Factors such as recurrent respiratory infections, enlarged tongue and hypertrophic tonsils contributed to this (Table 1).[actamedicaphilippina.com.ph]

  • Mucopolysaccharidosis 6

    Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[emedicine.medscape.com] Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com] Furthermore, the airway can become narrow in some individuals, resulting in frequent respiratory infections and sleep apnea.[ivami.com]

  • Fucosidosis

    Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features[ncbi.nlm.nih.gov] We studied the mucociliary and systemic immune function in a 6 year old girl with fucosidosis and recurrent respiratory infections.[ncbi.nlm.nih.gov] facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[orpha.net]

  • Primary Immune Deficiency Disorder

    facial features; delayed shedding of baby teeth; osteopenia; recurrent fractures; tissue and blood eosinophilia MHC antigen deficiencies Autosomal recessive Various including[merckmanuals.com] Coexistence of (Partial) Immune Defects and Risk of Recurrent Respiratory Infections. Clin Chem 2007 ; 53 : 124 -130.[clinchem.aaccjnls.org] Recurrent respiratory infections are common but this is by no means pathognomonic, as every GP will be aware of the 'sickly child' who seems to acquire infections from his[patient.info]

  • Mucopolysaccharidosis 4

    Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com] Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves.[morquio.ca] Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver ([ldnz.org.nz]

  • Mucolipidosis

    Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement.[ncbi.nlm.nih.gov] The airway is narrow, which can contribute to prolonged or recurrent respiratory infections.[ldnz.org.nz] This may lead to severe delays in physical and mental development, dysmorphic features, skeletal dysplasia, visual impairment, heart disease, and recurrent respiratory infections[symptoma.com]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Recurrent respiratory infections were noted in 11 of the 27 patients (41%) and recurrent otitis media was seen in 19 (70%), all with documented conductive hearing loss and[jamanetwork.com] […] ear and respiratory infections and or corneal clouding.[invitae.com]

  • Mucopolysaccharidosis 1H

    Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu] Most patients have recurrent ear and upper respiratory tract infections, persistent nasal discharge and noisy breathing.[themedicalbiochemistrypage.org] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org]

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