Pycnodysostosis. A case report. 1978

M M Taylor, and T M Moore, and J P Harvey

UI MeSH Term Description Entries
D008297 Male Males
D009087 Mucopolysaccharidosis VI Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). Maroteaux-Lamy Syndrome,Polydystrophic Dwarfism,ARSB Deficiency,Arylsulfatase B Deficiency,Mucopolysaccharidosis 6,Mucopolysaccharidosis Type 6,Mucopolysaccharidosis Type VI,N-Acetylgalactosamine-4-Sulfatase Deficiency,ARSB Deficiencies,Arylsulfatase B Deficiencies,Deficiencies, ARSB,Deficiencies, Arylsulfatase B,Deficiencies, N-Acetylgalactosamine-4-Sulfatase,Deficiency, ARSB,Deficiency, Arylsulfatase B,Deficiency, N-Acetylgalactosamine-4-Sulfatase,Dwarfism, Polydystrophic,Maroteaux Lamy Syndrome,N-Acetylgalactosamine-4-Sulfatase Deficiencies,Syndrome, Maroteaux-Lamy,Type 6, Mucopolysaccharidosis,Type VI, Mucopolysaccharidosis
D010022 Osteopetrosis Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY). Albers-Schoenberg Disease,Marble Bone Disease,Osteosclerosis Fragilis,Albers-Schonberg Disease,Albers-Schonberg Disease, Autosomal Dominant,Albers-Schönberg Disease,Autosomal Dominant Osteopetrosis Type 2,Congenital Osteopetrosis,Marble Bones, Autosomal Dominant,Osteopetrosis Autosomal Dominant Type 2,Osteopetrosis, Autosomal Dominant 2,Osteopetrosis, Autosomal Dominant, Type II,Osteosclerosis Fragilis Generalisata,Albers Schoenberg Disease,Albers Schonberg Disease,Albers Schonberg Disease, Autosomal Dominant,Albers Schönberg Disease,Disease, Albers-Schoenberg,Disease, Albers-Schonberg,Disease, Albers-Schönberg,Disease, Marble Bone,Osteopetroses,Osteosclerosis Fragilis Generalisatas
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism
D005264 Femoral Fractures Fractures of the femur. Femoral Fracture,Fracture, Femoral,Fractures, Femoral
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D005596 Fractures, Closed Fractures in which the break in bone is not accompanied by an external wound. Fractures, Occult,Closed Fracture,Closed Fractures,Fracture, Closed,Fracture, Occult,Occult Fracture,Occult Fractures
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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