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Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carriers

✍ Scribed by Costa, Teresa; Ramsby, Gale; Cassia, Fatima; Peters, Klaus-Ruediger; Soares, Jose; Correa, Jord�o; Quelce-Salgado, Antonio; Tsipouras, Petros

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
41 KB
Volume
75
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980217)75:5<523::aid-ajmg13>3.0.co;2-m

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✦ Synopsis

Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, Brazil. The phenotype is characterized by a normal axial skeleton and severely shortened and deformed limbs, with a proximo-distal gradient of severity. The humeri and femora were relatively normal, the radii/ulnae and tibiae/fibulae were short and deformed, carpal and tarsal bones were fused, and several metacarpal and metatarsal bones were absent. The proximal and middle phalanges of the fingers and toes were invariably absent, while the distal phalanges were present. Postaxial polydactyly was found in several affected individuals. Several joints of the carpus, tarsus, hand, and foot were absent. Heterozygotes presented with a variety of skeletal manifestations including polydactyly, brachydactyly, hallux valgus, and metatarsus adductus. Grebe syndrome is caused by a missense mutation in the gene encoding cartilage-derived morphogenetic protein-1. Am.

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