Biomaterial Database

Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. 1998

B Angle, and J H Hersh, and K M Christensen

Child Evaluation Center, Department of Pediatrics, University of Louisville, KY 40202, USA.

We report on a case of cloverleaf skull deformity in a patient with hypochondroplasia, a disorder which has not been previously associated with this anomaly. Hypochondroplasia is a bone dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Cloverleaf skull is a trilobar skull deformity which is etiologically and genetically heterogeneous and occurs in association with a number of disorders which result from mutations in the fibroblast growth factor receptor genes. Our patient demonstrated one of the common FGFR3 mutations identified in hypochondroplasia, a C-to-A change at nucleotide 1620 (C1620A) in the tyrosine kinase domain. The occurrence of a cloverleaf skull deformity appears to represent an example of variable expressivity in hypochondroplasia and suggests that additional factors other than a specific mutation can modify the phenotype in this disorder. In addition, identification of another FGFR mutation associated with cloverleaf skull further illustrates the genetic heterogeneity of this anomaly.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010009	Osteochondrodysplasias	Abnormal development of cartilage and bone.	Dyschondroplasias,Hyperostosis Corticalis Generalisata,Melnick-Needles Syndrome,Multiple Epiphyseal Dysplasia,Schwartz-Jampel Syndrome,Spondyloepiphyseal Dysplasia,Chondrodystrophic Myotonia,Dyschondroplasia,Endosteal Hyperostosis, Autosomal Recessive,Hyperphosphatasemia Tarda,Late-Onset Spondyloepiphyseal Dysplasia,Melnick-Needles Osteodysplasty,Myotonic Chondrodystrophy,Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities,Osteodysplasty of Melnick and Needles,SED Tarda,SJA Syndrome,Schwartz Jampel Aberfeld syndrome,Schwartz-Jampel Syndrome, Type 1,Schwartz-Jampel-Aberfeld Syndrome,Sost Sclerosing Bone Dysplasia,Sost-Related Sclerosing Bone Dysplasia,Spondylo-Epimetaphyseal Dysplasia With Myotonia,Spondyloepiphyseal Dysplasia Tarda, X-Linked,Spondyloepiphyseal Dysplasia, Late,Van Buchem Disease,X-Linked SED,X-Linked SEDT,X-Linked Spondyloepiphyseal Dysplasia Tarda,Chondrodystrophy, Myotonic,Dysplasia, Spondyloepiphyseal,Late Onset Spondyloepiphyseal Dysplasia,Late Spondyloepiphyseal Dysplasia,Melnick Needles Osteodysplasty,Melnick Needles Syndrome,Myotonia, Chondrodystrophic,Osteochondrodysplasia,Osteodysplasty, Melnick-Needles,SED, X-Linked,SEDT, X-Linked,Schwartz Jampel Syndrome,Schwartz Jampel Syndrome, Type 1,Spondyloepiphyseal Dysplasia Tarda, X Linked,Spondyloepiphyseal Dysplasia, Late-Onset,Syndrome, Schwartz-Jampel-Aberfeld,X Linked SED,X Linked SEDT,X Linked Spondyloepiphyseal Dysplasia Tarda
D011505	Protein-Tyrosine Kinases	Protein kinases that catalyze the PHOSPHORYLATION of TYROSINE residues in proteins with ATP or other nucleotides as phosphate donors.	Tyrosine Protein Kinase,Tyrosine-Specific Protein Kinase,Protein-Tyrosine Kinase,Tyrosine Kinase,Tyrosine Protein Kinases,Tyrosine-Specific Protein Kinases,Tyrosylprotein Kinase,Kinase, Protein-Tyrosine,Kinase, Tyrosine,Kinase, Tyrosine Protein,Kinase, Tyrosine-Specific Protein,Kinase, Tyrosylprotein,Kinases, Protein-Tyrosine,Kinases, Tyrosine Protein,Kinases, Tyrosine-Specific Protein,Protein Kinase, Tyrosine-Specific,Protein Kinases, Tyrosine,Protein Kinases, Tyrosine-Specific,Protein Tyrosine Kinase,Protein Tyrosine Kinases,Tyrosine Specific Protein Kinase,Tyrosine Specific Protein Kinases
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000168	Acrocephalosyndactylia	Congenital craniostenosis with syndactyly.	Apert Syndrome,Pfeiffer Syndrome,Saethre-Chotzen Syndrome,Acrocephalosyndactyly (Apert),Acrocephalosyndactyly III,Acrocephalosyndactyly, Type 1,Acrocephalosyndactyly, Type 3,Acrocephalosyndactyly, Type I,Acrocephalosyndactyly, Type II,Acrocephalosyndactyly, Type III,Acrocephalosyndactyly, Type V,Acrocephaly, Skull Asymmetry, and Mild Syndactyly,Apert-Crouzon Disease,Chotzen Syndrome,Craniofacial-Skeletal-Dermatologic Dysplasia,Dysostosis Craniofacialis with Hypertelorism,Kurczynski Casperson Syndrome,Noack Syndrome,Syndactylic Oxycephaly,Acrocephalosyndactylias,Acrocephalosyndactylies, Type 1,Acrocephalosyndactylies, Type 3,Acrocephalosyndactylies, Type I,Acrocephalosyndactylies, Type II,Acrocephalosyndactylies, Type III,Acrocephalosyndactylies, Type V,Acrocephalosyndactyly IIIs,Apert Crouzon Disease,Disease, Apert-Crouzon,Noack Syndromes,Saethre Chotzen Syndrome,Syndactylic Oxycephalies,Syndrome, Apert,Syndrome, Chotzen,Syndrome, Kurczynski Casperson,Syndrome, Noack,Syndrome, Pfeiffer,Syndrome, Saethre-Chotzen,Syndromes, Noack,Type I Acrocephalosyndactylies,Type I Acrocephalosyndactyly,Type II Acrocephalosyndactylies,Type II Acrocephalosyndactyly,Type III Acrocephalosyndactyly,Type V Acrocephalosyndactylies,Type V Acrocephalosyndactyly
D012886	Skull	The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.	Calvaria,Cranium,Calvarium,Skulls
D017354	Point Mutation	A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.	Mutation, Point,Mutations, Point,Point Mutations
D017468	Receptors, Fibroblast Growth Factor	Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.	FGF Receptor Complex,FGF Receptor Complexes,FGF Receptors,Fibroblast Growth Factor Receptors,Receptors, FGF,FGF Receptor,Fibroblast Growth Factor Receptor,Heparin-Binding Growth Factor Receptor,Heparin Binding Growth Factor Receptor,Receptor, FGF
D051498	Receptor, Fibroblast Growth Factor, Type 3	A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.	Fibroblast Growth Factor Receptor 3,CD333 Antigen,FGFR3 Protein,Fibroblast Growth Factor Receptors 3,Receptor 3, Fibroblast Growth Factor,Antigen, CD333