Syndromes/disorders OMIM Gene Acrofacial dysostosisa 263750 Alagille syndrome 118450 JAG1, NOTCH2 Anhalta 601344 Atelosteogenesis III 108721 FLNB Campomelic dysplasia 211970 SOX9 Casamassima-Morton-Nancea 271520 Caudal regressiona 182940 Cerebro-facio-thoracic dysplasiaa 213980 CHARGE…
Fig. 9.1 Timing and Genetic Consequence of de novo Mutations De novo mutation may occur at any time during embryonic development, ranging from prior to fertilization to after birth. Mutations…
Fig. 2.1 Bone development cartoon (reprinted from publication title: Transcriptional mechanisms in osteoblast differentiation and bone formation. Trends in Genetics Volume 19, Issue 8, August 2003, Page 459, with permission…
Fig. 8.1 Radiographs showing (a) a case of SCDO with severe vertebral segmentation anomalies throughout the vertebral column (adapted from [51] with permission from Oxford University Press); and (b) a…
Fig. 4.1 Schematic structure of DMP1 protein, gene and ARHR mutrations. a Schematic structure of the human DMP1 gene and ARHR mutations. DMP1 is composed of six exons. Because of…
Fig. 5.1 Patient with idiopathic scoliosis. Curvature of the spine to the right with should imbalance is evident in the picture on the left. Standing postero-anterior spinal radiograph reveals severe…
Fig. 1.1 Microarray SNP genotyping and copy number analysis. a Individual SNP genotypes are determined by the fluorescent color emitted when allele-specific probes (shown in black) are hybridized to the…
Gene OMIM number Autosomal dominant Larsen syndrome FLNB 150250 Ehlers Danlos syndromes, arthrochalasia type COL1A1, COL1A2 130060 Spondyloepimetaphyseal dysplasia with joint laxity- type 2 KIF22 603546 Autosomal recessive…
Fig. 6.1 Dorsal and plantar views of clubfoot Treatment The two most common nonsurgical approaches in current use are the Ponseti and Montpellier (French or functional) methods, which both promote…
