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366 Possible Causes for Coarse Facial Features, Hirsutism, Recurrent Respiratory Infections

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[]

  • Mucopolysaccharidosis 2

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

  • 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[] 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[] [] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[]

  • Chronic Alcoholism

    Porphyria cutanea tarda Porphyria cutanea tarda (PCT) results in photosensitivity, skin fragility, blistering, erosions, crusts, milia, scleroderma and increased hair growth ( hypertrichosis[]

  • Mucopolysaccharidosis 1

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[] 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[] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[]

  • Mucopolysaccharidosis 1H

    Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[] Most patients have recurrent ear and upper respiratory tract infections, persistent nasal discharge and noisy breathing.[] Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[]

  • Hypertrichotic Osteochondrodysplasia

    […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[] […] syndrome Differential Diagnoses Acquired generalized hypertrichosis Congenital hypertrichosis universalis Dermatologic Manifestations of Hirsutism Dermatologic Manifestations[] respiratory infections Abnormality of the pinna Clinodactyly Proteinuria Skeletal dysplasia Thin upper lip vermilion Micromelia Narrow chest Arrhythmia Finger syndactyly[]

  • Mucopolysaccharidosis 7

    Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[] respiratory infections, cardiac disease [ 32 , 33 ], hepatomegaly and splenomegaly, umbilical and inguinal hernias, chronic diarrhoea, CTS [ 34 ], communicating hydrocephalus[] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[]

  • Mucopolysaccharidosis 1 H-S

    facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[] Other manifestations may include organomegaly, hernias and hirsutism.[] Cardiac valve incompetence is common, as are recurrent respiratory infections.[]

  • Aspartylglucosaminuria

    facial features, and skeletal abnormalities become evident by adolescence.[] respiratory infections, delayed speech and cognitive development, gingival hyperplasia, and facial coarsening is reported as well.[] Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.[]

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