Biomaterial Database

[Congenital spondylo-epiphysial dysplasia. A case with histological findings (author's transl)]. 1979

A Haarmeyer

We have reported on an infant suffering from congenital spondylo-epiphysial dysplasia, in whom the autosomally dominant affliction could already be perceived in the baby's age by the relevant affection of the spine and of the proximal epiphyses. Firstly, it should be tried to stop the progredient kyphoscoliosis by a circular brace. A significantly increased mucopolysaccharide separation could biochemically not be stated in 24 h-urine. Gasser cells could not be found in the lymphocytes as proved by Spranger and Wiedmann in five of six patients. The histological investigation of the biopsy material, taken from the posterior iliac crest, resulted in a desmale ossification process which is atypical for this region.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009085	Mucopolysaccharidosis IV	Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.	Eccentro-Osteochondrodysplasia,Morquio's Disease,Eccentroosteochondrodysplasia,GALNS Deficiency,Galactosamine-6-Sulfatase Deficiency,MPS IV A,MPS IV B,MPS IVA,MPS IVB,Morquio A Disease,Morquio B Syndrome,Morquio Disease,Morquio Syndrome,Morquio Syndrome A,Morquio Syndrome B,Morquio Syndrome, Type B,Morquio's Disease Type B,Morquio's Syndrome,Morquio-B Disease,Mucopolysaccharidosis 4,Mucopolysaccharidosis 4B,Mucopolysaccharidosis Type IV,Mucopolysaccharidosis Type IV A,Mucopolysaccharidosis Type IV B,Mucopolysaccharidosis Type IVA,Mucopolysaccharidosis Type IVB,Deficiencies, GALNS,Deficiencies, Galactosamine-6-Sulfatase,Deficiency, GALNS,Deficiency, Galactosamine-6-Sulfatase,Disease, Morquio,Disease, Morquio A,Disease, Morquio's,Disease, Morquio-B,Eccentro Osteochondrodysplasia,Eccentro-Osteochondrodysplasias,Eccentroosteochondrodysplasias,GALNS Deficiencies,Galactosamine 6 Sulfatase Deficiency,Galactosamine-6-Sulfatase Deficiencies,IV, Mucopolysaccharidosis Type,IVs, Mucopolysaccharidosis Type,Morquio B Disease,Morquio Syndromes,Morquios Disease,Morquios Syndrome,Mucopolysaccharidosis 4Bs,Mucopolysaccharidosis Type IVBs,Mucopolysaccharidosis Type IVs,Syndrome A, Morquio,Syndrome, Morquio,Syndrome, Morquio B,Syndrome, Morquio's,Syndromes, Morquio,Type IV, Mucopolysaccharidosis,Type IVs, Mucopolysaccharidosis
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
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004838	Epiphyses	The head of a long bone that is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united.	Epiphysis
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012600	Scoliosis	An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)	Scolioses
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