Heterogeneity of nonlethal severe short-limbed dwarfism. 1977

G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz

The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type". We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism.

UI MeSH Term Description Entries
D008297 Male Males
D010009 Osteochondrodysplasias Abnormal development of cartilage and bone. Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda
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
D001848 Bone Diseases, Developmental Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES. Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
January 1974, Birth defects original article series,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
January 1974, Birth defects original article series,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
December 1995, International journal of paediatric dentistry,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
May 1979, The Journal of pediatrics,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
May 1971, The American journal of roentgenology, radium therapy, and nuclear medicine,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
October 1989, Taiwan yi xue hui za zhi. Journal of the Formosan Medical Association,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
January 1991, The Journal of pediatrics,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
January 1985, Skeletal radiology,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
April 1979, Rinsho hoshasen. Clinical radiography,
G Romeo, and J Zonana, and D L Rimoin, and R S Lachman, and C I Scott, and E G Kaveggia, and J W Spranger, and J M Opitz
January 1973, Medical radiography and photography,
Copied contents to your clipboard!