Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family

• Published in: American journal of medical genetics. Part A Vol. 121A; no. 1; pp. 9 - 14
• Main Authors: Al-Yahyaee, Said Ali S., Al-Kindi, Mohammed Nasser, Habbal, Omar, Kumar, Dilip Sankhla
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.08.2003
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; acromesomelic dysplasia; Base Sequence; Bone Diseases, Developmental - genetics; Bone Diseases, Developmental - pathology; Bone Morphogenetic Proteins - genetics; cartilage-derived morphogenetic protein-1 (CDMP-1); Consanguinity; Electrophoresis, Agar Gel; Female; Frameshift Mutation - genetics; Genes, Recessive; genetic variant; Grebe syndrome; Growth Differentiation Factor 5; Humans; Limb Deformities, Congenital - genetics; Limb Deformities, Congenital - pathology; Male; Molecular Sequence Data; Oman; Sequence Analysis, DNA; Oman

Grebe syndrome is a rare autosomal recessive acromesomelic dysplasia. The syndrome was studied clinically, radiographically, and genetically in an Omani family with four affected children. The affected persons had normal axial skeletons, severely shortened, and deformed limbs with severity increasin...