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234 Possible Causes for Dysmorphic Face, Recurrent Otitis Media, Recurrent Respiratory Infections

  • Mucopolysaccharidosis

    The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[] In our case, MPS IIIB was diagnosed at an early age because recurrent wheezing and otitis media in conjunction with hepatomegaly were recognised as more than trivial findings[] respiratory infections (obstructive airway diseases) X Heart disease- enlarged heart valves X 33. 33 Picture showing: skeletal abnormalities left (scoliosis of spine with[]

  • Mucopolysaccharidosis 6

    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[] The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.[] [] Recurrent Otitis Media We found ear, nose and throat manifestations in all types of MPS; in particular, recurrent otitis media was present in 30% of cases[]

  • Mucopolysaccharidosis 2

    Both the children had a history of recurrent respiratory infections and intermittent joint pain since early childhood.[] otitis media Broad chest Ivory-colored papular skin lesions on the upper back and sides of the upper arms Protuberant abdomen Diarrhea Short stature Skeletal deformities[] Factors such as recurrent respiratory infections, enlarged tongue and hypertrophic tonsils contributed to this (Table 1).[]

  • Down Syndrome

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

  • Primary Immune Deficiency Disorder

    Coexistence of (Partial) Immune Defects and Risk of Recurrent Respiratory Infections. Clin Chem 2007 ; 53 : 124 -130.[] […] hypoplasia syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome[] Affected children suffer from recurrent sinusitis, otitis media, upper respiratory infection and pneumonia, but also from developmental defects and failure to thrive.[]

  • Achondroplasia

    Only one had referred recurrent respiratory infections.[] Recurrent otitis media is common due to poor drainage of the Eustachian tubes from underdevelopment of the mid-face.[] Recurrent ear infections may cause hearing loss.[]

  • Mucopolysaccharidosis 1

    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[] Typical clinical findings at various ages include: 0 - 6 months Chronic rhinitis Recurrent otitis media or "glue ear" with thick cerumen Umbilical or inguinal hernia Above[] […] ear and respiratory infections and or corneal clouding.[]

  • Alpha-Mannosidosis

    This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation[] […] infections, especially upper airway infections, pulmonary infections and acute/serous otitis media infections.[] Poorly functioning white blood cells results in immune deficiency, and recurrent respiratory and inner ear infections are common, particularly within the first year.[]

  • Kniest Dysplasia

    There have been recurrent upper and lower respiratory infections and persistent mild stridor.[] Both have dysmorphic faces, while myopia and cleft palate may be present.[] Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[]

  • Mohr Syndrome

    Frequent fever, tachypnea and recurrent respiratory infections were observed in later days.[] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[] otitis media, usually associated with cleft palate, has been reported End stage renal disease (ESRD) has been reported in affected girls and women ranging in age from 11[]

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