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Brachyolmia: an autosomal dominant form. 1994

J Gardner, and P Beighton
Department of Human Genetics, University of Cape Town, Medical School, Observatory, South Africa.

We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence for the existence of an autosomal dominant form and supports the theory of heterogeneity in this rare group of genetic skeletal disorders. Molecular investigations in this South African family are currently underway but at present the basis defect of brachyolmia remains unknown.

UI MeSH Term Description Entries
D008297 Male Males
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
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
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

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