[Alpha-mannosidosis in two siblings].
A rare metabolic disease, alpha-mannosidosis, is described in two siblings. Psychomotoric deficiency, deafness, coarse face and radiological changes in the skeletal system indicated an inherited lysosomal storage disease.
Dawydzik
B
B
Specjalistyczna Przychodnia Pediatryczna Centrum Zdrowia Matki Polki w Lodzi.
Biegański
T
T
Modzelewska
E
E
Grałek
S
S
D001847:Bone Diseases / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003638:Deafness; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography; D008363:alpha-Mannosidosis / Q000175:diagnosis* / Q000235:genetics
Alfa-mannozydoza u dwojga rodzeństwa.