Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.
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.
Costa
T
T
Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.
Ramsby
G
G
Cassia
F
F
Peters
K R
KR
Soares
J
J
Correa
J
J
Quelce-Salgado
A
A
Tsipouras
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001175:Arthrography; D019485:Bone Morphogenetic Proteins; D002648:Child; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006580:Genetic Carrier Screening; D055428:Growth Differentiation Factor 5; D006133:Growth Substances / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007596:Joints / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D017689:Polydactyly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D013577:Syndrome
D019485:Bone Morphogenetic Proteins; D055428:Growth Differentiation Factor 5; D006133:Growth Substances