Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance.
Grebe syndrome (OMIM-200700), is a very rare autosomal recessive skeletal dysmorphism which exhibits itself as disproportionate dwarfism with profoundly shortened and deformed limbs, but with relatively normal axial and craniofacial skeleton.1,2
Grebe syndrome has been shown to be caused by mutations in CDMP1 gene at chromosome 20q11.2.3-5 To date only four families with this condition have been reported from Pakistan.
Owing to the remarkable similarities of phenotype in our subject with the Grebe syndrome, the index subject and his unaffected father were screened for the presence of any pathogenic mutation in the entire coding portion and intron-exon junctions of the CDMP1 gene.
To date, four Pakistani families have been reported with Grebe syndrome while three different mutations were found.
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.