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Langer-Giedion syndrome and deletion of the long arm of chromosome 8. 1981

J P Fryns, and N Logghe, and M van Eygen, and H Van den Berghe

UI MeSH Term Description Entries
D008297 Male Males
D009666 Nose A part of the upper respiratory tract. It contains the organ of SMELL. The term includes the external nose, the nasal cavity, and the PARANASAL SINUSES. External Nose,External Noses,Nose, External,Noses,Noses, External
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D005097 Exostoses, Multiple Hereditary Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. Chondrodysplasia, Hereditary Deforming,Diaphyseal Aclasis,Exostoses, Familial,Exostoses, Hereditary Multiple,Exostoses, Multiple,Exostoses, Multiple Cartilaginous,Hereditary Multiple Exostoses,Osteochondromas, Multiple,Bessel-Hagen Disease,Exostoses, Multiple, Type I,Exostosis, Familial,Exostosis, Hereditary Multiple,Exostosis, Multiple,Exostosis, Multiple Cartilaginous,Familial Exostoses,Hereditary Multiple Exostosis,Multiple Cartilaginous Exostoses,Multiple Hereditary Exostoses,Multiple Osteochondromas,Multiple Osteochondromatosis,Aclases, Diaphyseal,Aclasis, Diaphyseal,Cartilaginous Exostoses, Multiple,Cartilaginous Exostosis, Multiple,Chondrodysplasias, Hereditary Deforming,Deforming Chondrodysplasia, Hereditary,Deforming Chondrodysplasias, Hereditary,Diaphyseal Aclases,Familial Exostosis,Hereditary Deforming Chondrodysplasia,Hereditary Deforming Chondrodysplasias,Hereditary Exostoses, Multiple,Multiple Cartilaginous Exostosis,Multiple Exostoses,Multiple Exostoses, Hereditary,Multiple Exostosis,Multiple Exostosis, Hereditary,Multiple Osteochondroma,Osteochondroma, Multiple
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D006197 Hair A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body. Fetal Hair,Hair, Fetal,Lanugo,Fetal Hairs,Hairs,Hairs, Fetal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

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