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Table 2 Progressive nature of AGU: mouth, head and face, skin, connective tissue, health and test findings according age

From: Aspartylglycosaminuria: a review

Age in years Mouth Head and Face Skin Connective tissue State of health Test findings, brain MRI
<2 Normal Macrocephalia,
broad mandiple,
short and broad nose
Facial erythema Hernia, planovalgus, clubfoot Respiratory infections, diarrhoea Vacuolated cells in all tissues
2–5 Large tongue, broad dental arches, food retention Generous cheeks,
periorbital fullnes
Piezogymic papules in heels, white spots Tapered fingers, lordosis Respiratory infections, diarrhoea Delayed myelination, decreased T2 signal intensity of the thalami
6–9 Gingivitis, oral candida No change No change Bulging abdomen, knock-knees Benign subcutaneous tumors Thick and misshapen ribs, vertebral dysplasia
10–15 Gingival overgrowts No change Facial seborrhoea Broad and low ball of foot Arthritis rheumatoides Decreased T2 pulvinar signal intensity, mild cerebral atrophy
16–19 Edemic cheeks, cross bite No change Angiokeratoma Thoracic deformity Psychotic periods, epilepsy Neutropenia, thrombopenia, mild cerebellar atrophy
20–24 No change Coarsening facial feature Facial angiofibromas Childish appearance Restless sleep, confusion periods Evident cerebral and cerebellar atrophy
25–34 No change Thick eyebrows Facial rosacea Poor carriage Epilepsy
35–44 Loss of teeth and loss of gingical overgrowts Thick and broad/full lips Loose skin Muscle atrophy and hypotony Bursitis, osteoporosis, orofacial Attenuation in EEG
45+ Drooling Microcephalia Angiofibromas and rosacea increse Contractures in fingers and elbows Abscesses, fistula of skin, diarrhoea, anaemia, hearth insufficiency, p Progression of cerebral and cerebellar atrophy