The acro-osteolysis syndrome: Morphologic and biochemical studies.
The acro-osteolysis syndrome consists of dissolution of terminal phalanges of the hands and feet, dolichocephaly with multiple wormian bones, delayed closure of cranial sutures, absence of frontal sinuses, a prominent occipital ridge, skeletal demineralization, vertebral and extremity fractures, joint laxity, and coarse hair. Studies of bone morphology reveal diminished bone density and bone formation. Osteoblasts have widely dilated smooth endoplasmic reticulum. It is postulated that an abnormality of a structural protein is the pathogenic basis of this disease.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000201:enzymology; D000293:Adolescent; D001192:Arylsulfatases / Q000378:metabolism; D001862:Bone Resorption / Q000175:diagnosis*; D002648:Child; D003394:Craniofacial Dysostosis / Q000175:diagnosis* / Q000201:enzymology; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005528:Foot; D005696:Galactosidases / Q000378:metabolism; D005959:Glucosidases / Q000378:metabolism; D005966:Glucuronidase / Q000378:metabolism; D006225:Hand; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D007085:Ilium / Q000473:pathology; D008297:Male; D010006:Osteoblasts / Q000648:ultrastructure; D010014:Osteolysis / Q000175:diagnosis* / Q000201:enzymology; D013577:Syndrome
D001192:Arylsulfatases; D005696:Galactosidases; D005959:Glucosidases; D006596:Hexosaminidases; D005966:Glucuronidase