A short-limbed dwarfism affecting both sexes and evident from birth. The most characteristic features are extremely short limbs, the legs being more severely affected than arms. The hands are extremely short with toelike fingers, and the feet are in the valgus position. Polydactyly occurs in some more than half the cases. Other features include obesity and delayed mental development, but mentally normal. Facies normal. Inheritance is autosomal recessive.
Frst described by Grebe in 1952 on the basis of two dwarfed sisters aged 7 and 11 years, born to unaffected consanguineous parents. Quelce-Salgado's report in 1964 was based on 47 affected persons in 5 large consanguineous Brazilian kindreds
- H. Grebe:
Die Achondrogenesis: ein einfach rezessives Erbmerkmal.
Folia hereditaria et pathologicae, Pavia, 1952, 11: 23-29.
- H. Grebe:
Chondrodysplasie. Rome: Inst Gregor Mendel, pp. 300-303.
- A. Quelce-Salgado:
A new type of dwarfism with various bone aplasias and hypoplasia of the extremities.
Acta genetica et statistica medica, Basel, 1964, 25: 68-72.
- J. M. Garcia-tcastro, A. Comas:
Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships.
Journal of Pediatrics, St. Louis, December 1975, 87(6 Pt 1): 948-952.
- P. Meera Khan, A. Khan:
Grebe chondrodysplasia in three generations of and Andhra family in India.
In: C. J. Papadatos, C. S. Bartsocas, editors: Skeletal Dysplasias. New York, Alan R. Liss, 1982.
- D. Kumar, D. Curtis, C. E. Blank:
Grebe chondrodysplasia and brachydactyly in a family.
Clinical Genetics, Copenhagen, 1984, 25: 68-72.
- D. Curtis:
Heterozygote expression in Grebe chondrodysplasia (Letter).
Clinical Genetics, Copenhagen, 1986, 29: 455-456.
- T. Costa, G. Ramsby, F. Cassia, K.-R. Peters, J. Soares, J Correa, A. Quelce-Salgado, P. Tsipouras:
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers. American Journal of Medical Genetics, New York, 1998, 75: 523-529.