Biomaterial Database

[Pseudo-achnodroplasia in two brothers (author's transl)]. 1978

T Danilewicz-Wytrychowska, and R Wasikowa, and L Sadowska, and Z Iwanicka

The authors describe two brothers with pseudo-achondroplasia. The literature is reviewed and the clinical and radiological features and differential diagnosis are discussed.

UI	MeSH Term	Description	Entries
D007719	Knee Joint	A synovial hinge connection formed between the bones of the FEMUR; TIBIA; and PATELLA.	Superior Tibiofibular Joint,Joint, Knee,Joint, Superior Tibiofibular,Knee Joints,Superior Tibiofibular Joints,Tibiofibular Joint, Superior
D008297	Male		Males
D009083	Mucopolysaccharidoses	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.	Mucopolysaccharidosis
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
D010388	Pelvis	The space or compartment surrounded by the pelvic girdle (bony pelvis). It is subdivided into the greater pelvis and LESSER PELVIS. The pelvic girdle is formed by the PELVIC BONES and SACRUM.	Pelvic Region,Region, Pelvic
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
D006225	Hand	The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.	Hands
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013131	Spine	The spinal or vertebral column.	Spinal Column,Vertebrae,Vertebral Column,Vertebra,Column, Spinal,Column, Vertebral,Columns, Spinal,Columns, Vertebral,Spinal Columns,Vertebral Columns