Enfermedades óseas constitucionales

EMC - Pediatría - Tập 46 - Trang 1-18 - 2011
M. Le Merrer1
1Centre de référence maladies osseuses constitutionnelles et Inserm U781, Hôpital Necker-Enfants malades, 149, rue de Sèvres, 75743 Paris cedex 15, France

Tài liệu tham khảo

Maroteaux, 2002 Taybi, 1990 Superti-Furga, 2007, Nosology and classification of genetic skeletal disorders, Am J Med Genet, 143A, 1, 10.1002/ajmg.a.31483 Doray, 2000, Prenatal sonographic diagnosis for skeletal dysplasia. A report of 47 cases, Ann. Genet., 43, 163, 10.1016/S0003-3995(00)01026-1 Schramm, 2009, Prenatal sonographic diagnosis of skeletal dysplasias, Ultrasound Obstet. Gynecol., 34, 160, 10.1002/uog.6359 Krakow, 2003, Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset Skeletal dysplasias, Ultrasound Obstet. Gynecol., 21, 467, 10.1002/uog.111 Ruano, 2004, Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography, Ultrasound Obstet. Gynecol., 24, 134, 10.1002/uog.1113 Le Merrer, 2003, Grossesses pathologiques pour raisons fœtales, classification, éléments du diagnostic Bonaventure, 1996, Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism, Am. J. Med. Genet., 63, 148, 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N Smits, 2010, Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210, N. Engl. J. Med., 362, 206, 10.1056/NEJMoa0900158 Hastbacka, 1994, The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping, Cell, 78, 1073, 10.1016/0092-8674(94)90281-X Superti-Furga, 1996, A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations, Am. J. Med. Genet., 63, 144, 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N Spranger, 1994, The type II collagenopathies: a spectrum of chondrodysplasias, Eur. J. Pediatr., 153, 56 Cavalcanti DP, Huber C, Le Quan Sang KH, Baujat G, Collins F, Delezoide AL, et al. Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet 2009 Aug 11. Merrill, 2009, Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome, Am J Hum Genet, 84, 542, 10.1016/j.ajhg.2009.03.015 Greally, 1993, Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia, Am. J. Med. Genet., 47, 1086, 10.1002/ajmg.1320470731 Krakow, 2004, Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis, Nat. Genet., 36, 405, 10.1038/ng1319 Hunter, 1998, Medical complications of achondroplasia: a multicentre patient review, J. Med. Genet., 35, 705, 10.1136/jmg.35.9.705 Baujat, 2008, Achondroplasia, Best Pract Res Clin Rheumatol, 22, 3, 10.1016/j.berh.2007.12.008 Aryanpur, 1990, Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia, J. Neurosurg., 73, 375, 10.3171/jns.1990.73.3.0375 Horton, 1992, Growth hormone therapy in achondroplasia, Am. J. Med. Genet., 42, 667, 10.1002/ajmg.1320420508 Brinkmann, 1993, Cognitive skills in achondroplasia, Am. J. Med. Genet., 47, 800, 10.1002/ajmg.1320470540 Le Merrer, 1994, A gene for achondroplasia-hypochondroplasia maps to chromosome 4p, Nat. Genet., 6, 318, 10.1038/ng0394-318 Rousseau, 1994, Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia, Nature, 371, 252, 10.1038/371252a0 Bellus, 1995, A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia, Nat. Genet., 10, 357, 10.1038/ng0795-357 Braverman, 1997, Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata, Nat. Genet., 15, 369, 10.1038/ng0497-369 Maroteaux, 1989, Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form, Hum. Genet., 82, 167, 10.1007/BF00284052 Franco, 1995, A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy, Cell, 81, 15, 10.1016/0092-8674(95)90367-4 Kelley, 1999, Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata, Am. J. Med. Genet., 83, 213, 10.1002/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C Braverman, 1999, Mutation in the gene encoding 3ß- hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome, Nat. Genet., 22, 291, 10.1038/10357 Hästbacka, 1994, The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping, Cell, 78, 1073, 10.1016/0092-8674(94)90281-X Hätsbacka, 1996, Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate transporte gene (DTDST), Am. J. Hum. Genet., 58, 255 Genevieve, 2005, Long-term follow-up in a patient with metatropic dysplasia, Am. J. Med. Genet. A., 135, 342, 10.1002/ajmg.a.30710 Krakow, 2009, Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia, Am. J. Hum. Genet., 84, 307, 10.1016/j.ajhg.2009.01.021 Belin, 1998, SHOX mutations in dyschondrosteosis (Leri-Weill syndrome), Nat. Genet., 19, 67, 10.1038/ng0198-67 Afzal, 2000, Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, Nat. Genet., 25, 419, 10.1038/78107 Faiyaz-Ul-Haque, 2002, Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia, Am. J. Med. Genet., 111, 31, 10.1002/ajmg.10501 Bartels, 2004, Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux, Am. J. Hum. Genet., 75, 27, 10.1086/422013 Hoornaert, 2006, The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene, J. Med. Genet., 43, 406, 10.1136/jmg.2005.035717 Spranger, 1994, The type II collagenopathies: a spectrum of chondrodysplasias, Eur. J. Pediatr., 153, 56 Winterpacht, 1993, Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1)defect, Nat. Genet., 3, 323, 10.1038/ng0493-323 Annunen, 1999, Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes, Am. J. Hum. Genet., 65, 974, 10.1086/302585 Vikkula, 1995, Autosomal dominant and recessive osteochondrodysplasias associated to the COL11A2 locus, Cell, 80, 431, 10.1016/0092-8674(95)90493-X Maroteaux, 1964, La dystrophie thoracique asphyxiante : étude radiologique et rapports avec le syndrome d'Ellis et van Creveld, Ann. Radiol. (Paris), 7, 332 Ruiz-Perez, 2000, Mutations in a new gene in Ellis-Van Creveld syndrome and Weyers acrodental dysostosis, Nat. Genet., 24, 283, 10.1038/73508 Ruiz-Perez, 2003, Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome, Am. J. Hum. Genet., 72, 728, 10.1086/368063 Beales, 2007, IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy, Nat. Genet., 39, 727, 10.1038/ng2038 Dagoneau, 2009, DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III, Am. J. Hum. Genet., 84, 706, 10.1016/j.ajhg.2009.04.016 Mundlos, 1999, Cleidocranial dysplasia: clinical and molecular genetics, J. Med. Genet., 36, 177 Mundlos, 1997, Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia, Cell, 89, 773, 10.1016/S0092-8674(00)80260-3 Cormier-Daire, 2004, New insights in congenital bowing of the femora, Clin. Genet., 66, 169, 10.1111/j.0009-9163.2004.00307.x Maroteaux, 1971, Le syndrome campomélique, Presse Med., 22, 1157 Offiah, 2002, Surviving campomelic dysplasia has the radiological features of the previously reported ischiopubic-patella syndrome, J. Med. Genet., 39, e50, 10.1136/jmg.39.9.e50 Wagner, 1994, Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY related gene SOX9, Cell, 79, 1111, 10.1016/0092-8674(94)90041-8 Foster, 1994, Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene, Nature, 372, 525, 10.1038/372525a0 Cormier-Daire, 1998, Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel type 2, Am. J. Med. Genet., 78, 146, 10.1002/(SICI)1096-8628(19980630)78:2<146::AID-AJMG9>3.0.CO;2-M Dagoneau, 2004, Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, Am. J. Hum. Genet., 74, 298, 10.1086/381715 Le Merrer, 2003, Re-evaluation of kyphomelic dysplasia, Am. J. Med. Genet. A., 120A, 289, 10.1002/ajmg.a.20035 Hecht, 1995, Mutations in exon 17b of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia, Nat. Genet., 10, 325, 10.1038/ng0795-325 Briggs, 2002, Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations, Hum. Mutat., 19, 465, 10.1002/humu.10066 Briggs, 1998, Diverse mutations of the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum, Am. J. Hum. Genet., 62, 311, 10.1086/301713 Paassilta, 1999, COL9A3: a third locus for multiple epiphyseal dysplasia, Am. J. Hum. Genet., 64, 1036, 10.1086/302328 Makitie, 2005, Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients, Am. J. Med. Genet., 137A, 241, 10.1002/ajmg.a.30855 Wallis, 1996, Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia, J. Med. Genet., 33, 450, 10.1136/jmg.33.6.450 Makitie, 1993, Cartilage-hair hypoplasia: clinical manifestations in 108 finnish patients, Eur. J. Pediatr., 152, 211, 10.1007/BF01956147 Ridanpää, 2001, Mutations in the RNA component of Rnase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia, Cell, 104, 195, 10.1016/S0092-8674(01)00205-7 Schipani, 1995, A constitutively active mutant PTH-PTHrP receptor in Jansen type metaphyseal chondrodysplasia, Science, 268, 98, 10.1126/science.7701349 Kozlowski, 1967, La dysostose spondylo-métaphysaire, Presse Med., 75, 2769 Krakow, 2000, Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia, Am. J. Hum. Genet., 84, 307, 10.1016/j.ajhg.2009.01.021 Paupe, 2004, Recent advances in Dyggve-Melchior-Clausen syndrome, Mol. Genet. Metab., 83, 51, 10.1016/j.ymgme.2004.08.012 Hurvitz, 1999, Mutations in the CCN gene family member WISP3 cause progressive pseudoheumatoid dysplasia, Nat. Genet., 23, 94, 10.1038/12699 Gedeon, 2001, The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, Am. J. Hum. Genet., 68, 1386, 10.1086/320592 Shobat, 1989, Brachyolmia: radiographic and genetic evidence of heterogeneity, Am. J. Med. Genet., 33, 209, 10.1002/ajmg.1320330214 Lüdecke, 2001, Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, Am. J. Hum. Genet., 68, 81, 10.1086/316926 Graham, 2001, Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism, Pediatr. Radiol., 31, 2, 10.1007/s002470000355 Sheela, 2005, Acrodysostosis: autosomal dominant transmission, Indian Pediatr., 42, 822 Le Goff, 2008, ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation, Nat. Genet., 40, 1119, 10.1038/ng.199 Le Goff, 2009, Genetic and molecular aspects of acromelic dysplasia, Pediatr Endocrinol Rev, 6, 418 Huber, 2001, SHOX point mutations in dyschondrosteosis, J. Med. Genet., 38, 323, 10.1136/jmg.38.5.323 Legeai-Mallet, 1992, Incomplete penetrance and sex-ratio skewing in hereditary multiple exostoses, Clin. Genet., 52, 12, 10.1111/j.1399-0004.1997.tb02508.x Wuyts, 2000, Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes, Hum. Mutat., 15, 220, 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K Pannier, 2008, Hereditary multiple exostoses and enchondromatosis, Best Pract Res Clin Rheumatol, 22, 45, 10.1016/j.berh.2007.12.004 Silve, 2006, Ollier disease, Orphanet J Rare Dis, 1, 37, 10.1186/1750-1172-1-37 Chapurlat, 2008, Fibrous dysplasia of bone and McCune-Albright syndrome, Best Pract Res Clin Rheumatol, 22, 55, 10.1016/j.berh.2007.11.004 Bianco, 2000, Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone, J. Bone Miner. Res., 15, 120, 10.1359/jbmr.2000.15.1.120 Glorieux, 2008, Osteogenesis imperfect, Best Pract Res Clin Rheumatol, 22, 85, 10.1016/j.berh.2007.12.012 Byers, 1991, Osteogenesis imperfecta: translation of mutation to phenotype, J. Med. Genet., 28, 433, 10.1136/jmg.28.7.433 Cohen-Solal, 1991, Dominant mutations in familial lethal and severe osteogenesis imperfecta, Hum. Genet., 87, 297, 10.1007/BF00200907 Prockop, 1993, Mutations in type I procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies, J. Bone Miner. Res., 8, 489, 10.1002/jbmr.5650081311 Alanay, 2010, Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal Recessive Osteogenesis Imperfecta, Am. J. Hum. Genet., 87, 572, 10.1016/j.ajhg.2010.09.002 Finidori, 1978, L'ostéogenèse imparfaite (maladie de Lobstein) et son traitement chirurgical, Ann. Pediatr. (Paris), 25, 27 Mornet, 2008, Hypophosphatasia, Best Pract Res Clin Rheumatol, 22, 113, 10.1016/j.berh.2007.11.003 Dent, 1965, Idiopathic juvenile osteoporosis, Q. J. Med., 34, 177 De Vernejoul, 2008, Sclerosing bone disorders, Best Pract Res Clin Rheumatol, 22, 71, 10.1016/j.berh.2007.12.011 Ballet, 1977, Bone marrow transplantation in osteopetrosis, Lancet, 2, 1137, 10.1016/S0140-6736(77)90592-X Bollerslev, 1988, Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis, Bone, 9, 7, 10.1016/8756-3282(88)90021-X Sly, 1983, Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification, Proc. Natl. Acad. Sci. USA, 80, 2752, 10.1073/pnas.80.9.2752 Maroteaux, 1962, La pycnodysostose, Presse Med., 70, 999 Gelb, 1996, Pycnodysostosis a lysosomal disorder caused by cathepsin K deficiency, Science, 273, 1236, 10.1126/science.273.5279.1236 Zhang, 2009, Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis, Clin. Genet., 75, 556, 10.1111/j.1399-0004.2009.01177.x Léri, 1922, Une affection non décrite des os : l'hyperostose en « coulée » sur toute la longueur d'un membre ou mélorhéostose, Bull Soc Méd Hôp Paris, 46, 1141 Larregue, 1972, L'ostéopathie striée, symptôme radiologique de l'hypoplasie dermique en aires, Ann. Radiol. (Paris), 15, 287 Jenkins, 2009, Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis, Nat. Genet., 41, 95, 10.1038/ng.270 Thomas, 1996, A human chondrodysplasia due to a mutation in a TGF-beta superfamily member, Nat. Genet., 12, 315, 10.1038/ng0396-315 Nurnberg, 1997, The gene for autosomal craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene, Am. J. Hum. Genet., 61, 918, 10.1086/514880 Lajeunie, 2001, Craniosynostosis and fetal exposure to sodium valproate, J. Neurosurg., 95, 778, 10.3171/jns.2001.95.5.0778 Bonaventure, 2003, Molecular and cellular bases of syndromic craniosynostoses, Expert Rev. Mol. Med., 5, 1, 10.1017/S1462399403005751 Lajeunie, 2006, Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome, Eur. J. Hum. Genet., 14, 289, 10.1038/sj.ejhg.5201558 El Ghouzzi, 1999, Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome, Eur. J. Hum. Genet., 7, 27, 10.1038/sj.ejhg.5200240 Lajeunie, 1999, Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation, J. Med. Genet., 36, 9 Dixon, 1997, Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1, Hum. Mol. Genet., 6, 727, 10.1093/hmg/6.5.727 Campbell, 2009, Spine deformities in rare congenital syndromes: clinical issues, Spine, 34, 1815, 10.1097/BRS.0b013e3181ab64e9 Zanotti, 2010, Notch and the skeleton, Mol. Cell. Biol., 30, 886, 10.1128/MCB.01285-09 McIntosh, 1998, Mutation analysis of LMX1B gene in nail-patella syndrome patients, Am. J. Hum. Genet., 63, 1651, 10.1086/302165