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Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD; Jorma Palo, MD; Seppo Autio, MD
Am J Dis Child. 1974;127(4):561-562. doi:10.1001/archpedi.1974.02110230107019.
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Denouement and Discussion 

Aspartylglucosaminuria 

Manifestations  Major manifestations include mental retardation, coarse facial appearance, decreased elasticity of the skin, hyperextensibility of the joints, and skeletal changes. Manifestations are age-related and usually do not appear before age 4 months, at which time diarrhea, recurrent respiratory infections, and inguinal hernias are present. Mental retardation becomes apparent between ages 1 and 5 years and increases in severity as the child grows older. By 5 years of age there may be a suggestion of coarse facial appearance that becomes more obvious between ages 10 and 15 years. Other findings that may appear between the ages of 5 and 9 years are protuberant abdomen, hyperextensibility of the joints, impaired speech, hypotonia, and increasing clumsiness. Hoarseness of the voice, lens opacities, large tongue, hypogonadism, spasticity of the legs, dysarthric speech, and short stature are usually apparent by age 15 years. The coarse facial characteristics at their fullest

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