{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T08:58:00Z","timestamp":1793177880426,"version":"4.5.0"},"reference-count":68,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T00:00:00Z","timestamp":1492041600000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Osteoporos Rep"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose of the Review<\/jats:title><jats:p>This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII).<\/jats:p><\/jats:sec><jats:sec><jats:title>Recent Findings<\/jats:title><jats:p>Over the last 15\u00a0years, significant strides have been made in the diagnosis, natural history, and management of MOPDII.<\/jats:p><\/jats:sec><jats:sec><jats:title>Summary<\/jats:title><jats:p>MOPDII is the most common and well described form of MPD. The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly. In addition to these features, individuals with MOPDII have characteristic facies, skeletal dysplasia, abnormal dentition, and an increased risk for cerebrovascular disease and insulin resistance. Biallelic loss-of-function mutations in the pericentrin gene cause MOPDII, which is inherited in an autosomal recessive manner.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s11914-017-0348-1","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T03:26:05Z","timestamp":1492053965000},"page":"61-69","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review"],"prefix":"10.1007","volume":"15","author":[{"given":"Michael B.","family":"Bober","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,4,13]]},"reference":[{"issue":"4","key":"348_CR1","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1016\/S0022-3476(60)80108-4","volume":"57","author":"BJ Grossman","year":"1960","unstructured":"Grossman BJ, Helmut GP. Seckel, 1900-1960. J Pediatr. 1960;57(4):638.","journal-title":"J Pediatr"},{"issue":"1","key":"348_CR2","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/ajmg.1320120103","volume":"12","author":"F Majewski","year":"1982","unstructured":"Majewski F, Goecke T. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet. 1982;12(1):7\u201321.","journal-title":"Am J Med Genet"},{"key":"348_CR3","unstructured":"Seckel HPG. Bird-headed dwarfs. Springfield, Ill.,: C. C. Thomas; 1960. 241 p. p."},{"issue":"1","key":"348_CR4","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1002\/ajmg.1320120104","volume":"12","author":"F Majewski","year":"1982","unstructured":"\u2022 Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet. 1982;12(1):23\u201335. This paper provides the original description of MOPDII.","journal-title":"Am J Med Genet"},{"issue":"1","key":"348_CR5","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/ajmg.1320120105","volume":"12","author":"F Majewski","year":"1982","unstructured":"Majewski F, Stoeckenius M, Kemperdick H. Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles\u2014osteodysplastic primordial dwarfism type III. Am J Med Genet. 1982;12(1):37\u201342.","journal-title":"Am J Med Genet"},{"issue":"19","key":"348_CR6","doi-asserted-by":"publisher","first-page":"2011","DOI":"10.1101\/gad.169037","volume":"25","author":"A Klingseisen","year":"2011","unstructured":"Klingseisen A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Dev. 2011;25(19):2011\u201324.","journal-title":"Genes Dev"},{"issue":"2","key":"348_CR7","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1002\/ajmg.1320330216","volume":"33","author":"EA Haan","year":"1989","unstructured":"Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, et al. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet. 1989;33(2):224\u20137.","journal-title":"Am J Med Genet"},{"issue":"3","key":"348_CR8","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1002\/ajmg.1320210318","volume":"21","author":"RM Winter","year":"1985","unstructured":"Winter RM, Wigglesworth J, Harding BN. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am J Med Genet. 1985;21(3):569\u201374.","journal-title":"Am J Med Genet"},{"issue":"11","key":"348_CR9","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1136\/jmg.28.11.795","volume":"28","author":"P Meinecke","year":"1991","unstructured":"Meinecke P, Passarge E. Microcephalic osteodysplastic primordial dwarfism type I\/III in sibs. J Med Genet. 1991;28(11):795\u2013800.","journal-title":"J Med Genet"},{"issue":"2","key":"348_CR10","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1002\/ajmg.1320390228","volume":"39","author":"P Meinecke","year":"1991","unstructured":"Meinecke P, Schaefer E, Wiedemann HR. Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. Am J Med Genet. 1991;39(2):232\u20136.","journal-title":"Am J Med Genet"},{"issue":"6","key":"348_CR11","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1007\/BF02013522","volume":"22","author":"H Taybi","year":"1992","unstructured":"Taybi H. Cephalo-skeletal dysplasia and microcephalic osteodysplastic primordial dwarfism. Pediatr Radiol. 1992;22(6):476.","journal-title":"Pediatr Radiol"},{"issue":"3","key":"348_CR12","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1002\/ajmg.1320430326","volume":"43","author":"H Taybi","year":"1992","unstructured":"Taybi H. Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). Am J Med Genet. 1992;43(3):628\u20139.","journal-title":"Am J Med Genet"},{"issue":"11","key":"348_CR13","doi-asserted-by":"publisher","first-page":"2885","DOI":"10.1002\/ajmg.a.34299","volume":"155A","author":"GM Abdel-Salam","year":"2011","unstructured":"Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, et al. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet A. 2011;155A(11):2885\u201396.","journal-title":"Am J Med Genet A"},{"key":"348_CR14","doi-asserted-by":"crossref","unstructured":"Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, et al. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clinical genetics 2011.","DOI":"10.1111\/j.1399-0004.2011.01756.x"},{"issue":"6026","key":"348_CR15","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1126\/science.1202205","volume":"332","author":"P Edery","year":"2011","unstructured":"Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011;332(6026):240\u20133.","journal-title":"Science"},{"issue":"6026","key":"348_CR16","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1126\/science.1200587","volume":"332","author":"H He","year":"2011","unstructured":"He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, et al. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science. 2011;332(6026):238\u201340.","journal-title":"Science"},{"issue":"3","key":"348_CR17","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1097\/00019605-199407000-00004","volume":"3","author":"RG Boles","year":"1994","unstructured":"Boles RG, Teebi AS, Schwartz D, Harper JF. Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clin Dysmorphol. 1994;3(3):207\u201314.","journal-title":"Clin Dysmorphol"},{"issue":"1","key":"348_CR18","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1002\/humu.22461","volume":"35","author":"JE Murray","year":"2014","unstructured":"Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, et al. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat. 2014;35(1):76\u201385.","journal-title":"Hum Mutat"},{"issue":"3","key":"348_CR19","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1016\/j.ajhg.2015.01.013","volume":"96","author":"JE Murray","year":"2015","unstructured":"Murray JE, van der Burg M, IJ H, Carroll P, Wu Q, Ochi T, et al. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet. 2015;96(3):412\u201324.","journal-title":"Am J Hum Genet"},{"issue":"12","key":"348_CR20","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1002\/humu.22436","volume":"34","author":"H Ijspeert","year":"2013","unstructured":"Ijspeert H, Warris A, van der Flier M, Reisli I, Keles S, Chishimba S, et al. Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities. Hum Mutat. 2013;34(12):1611\u20134.","journal-title":"Hum Mutat"},{"key":"348_CR21","doi-asserted-by":"crossref","unstructured":"Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, et al. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2015.","DOI":"10.1038\/ng.3451"},{"issue":"1","key":"348_CR22","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1097\/MED.0000000000000121","volume":"22","author":"FS Alkuraya","year":"2015","unstructured":"Alkuraya FS. Primordial dwarfism: an update. Current opinion in endocrinology, diabetes, and obesity. 2015;22(1):55\u201364.","journal-title":"Current opinion in endocrinology, diabetes, and obesity"},{"key":"348_CR23","doi-asserted-by":"crossref","unstructured":"Khetarpal P, Das S, Panigrahi I, Munshi A. Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genomics 2015.","DOI":"10.1007\/s00438-015-1110-y"},{"issue":"4","key":"348_CR24","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/ng.775","volume":"43","author":"LS Bicknell","year":"2011","unstructured":"Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43(4):356\u20139.","journal-title":"Nat Genet"},{"issue":"4","key":"348_CR25","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1038\/ng.776","volume":"43","author":"LS Bicknell","year":"2011","unstructured":"Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43(4):350\u20135.","journal-title":"Nat Genet"},{"issue":"1","key":"348_CR26","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.ajhg.2016.05.019","volume":"99","author":"AL Fenwick","year":"2016","unstructured":"Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, et al. Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. Am J Hum Genet. 2016;99(1):125\u201338.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"348_CR27","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1038\/ng.777","volume":"43","author":"DL Guernsey","year":"2011","unstructured":"Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011;43(4):360\u20134.","journal-title":"Nat Genet"},{"issue":"1","key":"348_CR28","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1038\/ng.725","volume":"43","author":"E Kalay","year":"2011","unstructured":"Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011;43(1):23\u20136.","journal-title":"Nat Genet"},{"issue":"11","key":"348_CR29","doi-asserted-by":"publisher","first-page":"e1002945","DOI":"10.1371\/journal.pgen.1002945","volume":"8","author":"T Ogi","year":"2012","unstructured":"Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, et al. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel syndrome. PLoS Genet. 2012;8(11):e1002945.","journal-title":"PLoS Genet"},{"issue":"11","key":"348_CR30","doi-asserted-by":"publisher","first-page":"e1003022","DOI":"10.1371\/journal.pgen.1003022","volume":"8","author":"RE McIntyre","year":"2012","unstructured":"McIntyre RE, Lakshminarasimhan Chavali P, Ismail O, Carragher DM, Sanchez-Andrade G, Forment JV, et al. Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. PLoS Genet. 2012;8(11):e1003022.","journal-title":"PLoS Genet"},{"issue":"10","key":"348_CR31","doi-asserted-by":"publisher","first-page":"e1002310","DOI":"10.1371\/journal.pgen.1002310","volume":"7","author":"P Qvist","year":"2011","unstructured":"Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, et al. CtIP mutations cause Seckel and Jawad syndromes. PLoS Genet. 2011;7(10):e1002310.","journal-title":"PLoS Genet"},{"issue":"12","key":"348_CR32","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1038\/ng.3122","volume":"46","author":"CA Martin","year":"2014","unstructured":"Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, et al. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014;46(12):1283\u201392.","journal-title":"Nat Genet"},{"key":"348_CR33","doi-asserted-by":"crossref","unstructured":"Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BH, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. Clin Genet. 2015.","DOI":"10.1111\/cge.12688"},{"key":"348_CR34","unstructured":"Bennett J, Schrier Vergano SA, Deardorff MA. IMAGe syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA) 2014."},{"issue":"6","key":"348_CR35","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1097\/NEN.0b013e3181772777","volume":"67","author":"K Deguchi","year":"2008","unstructured":"Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, et al. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol. 2008;67(6):565\u201377.","journal-title":"J Neuropathol Exp Neurol"},{"key":"348_CR36","doi-asserted-by":"crossref","unstructured":"Barraza-Garcia J, Ivan Rivera-Pedroza C, Salamanca L, Belinchon A, Lopez-Gonzalez V, Sentchordi-Montane L, et al. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: clinical homogeneity but also unreported malformations. Am J Med Genet A 2015.","DOI":"10.1002\/ajmg.a.37393"},{"key":"348_CR37","doi-asserted-by":"crossref","unstructured":"Min Ko J, Jung S, Seo J, Ho Shin C, Il Cheong H, Choi M, et al. SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. J Hum Genet 2016.","DOI":"10.1038\/jhg.2015.174"},{"issue":"2","key":"348_CR38","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1016\/j.ajhg.2012.05.025","volume":"91","author":"R Shaheen","year":"2012","unstructured":"Shaheen R, Faqeih E, Shamseldin HE, Noche RR, Sunker A, Alshammari MJ, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91(2):330\u20136.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"348_CR39","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/ajmg.a.30203","volume":"130A","author":"JG Hall","year":"2004","unstructured":"\u2022\u2022 Hall JG, Flora C, Scott Jr CI, Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004;130A(1):55\u201372. This paper provides the first and most comprehensive clinical review of MOPDII.","journal-title":"Am J Med Genet A"},{"issue":"12","key":"348_CR40","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1136\/jmg.2009.067298","volume":"47","author":"M Willems","year":"2010","unstructured":"Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel\/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010;47(12):797\u2013802.","journal-title":"J Med Genet"},{"issue":"6","key":"348_CR41","doi-asserted-by":"publisher","first-page":"1398","DOI":"10.1002\/ajmg.a.33984","volume":"155A","author":"P Kantaputra","year":"2011","unstructured":"Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, et al. The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A. 2011;155A(6):1398\u2013403.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"348_CR42","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1002\/ajmg.a.31009","volume":"139","author":"F Brancati","year":"2005","unstructured":"Brancati F, Castori M, Mingarelli R, Dallapiccola B. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A. 2005;139(3):212\u20135.","journal-title":"Am J Med Genet A"},{"issue":"5","key":"348_CR43","doi-asserted-by":"publisher","first-page":"439","DOI":"10.3171\/2009.6.PEDS08137","volume":"4","author":"JS Waldron","year":"2009","unstructured":"Waldron JS, Hetts SW, Armstrong-Wells J, Dowd CF, Fullerton HJ, Gupta N, et al. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. J Neurosurg Pediatr. 2009;4(5):439\u201344.","journal-title":"J Neurosurg Pediatr"},{"issue":"4","key":"348_CR44","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1002\/ajmg.a.33252","volume":"152A","author":"MB Bober","year":"2010","unstructured":"Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott Jr CI, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A. 2010;152A(4):960\u20135.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"348_CR45","doi-asserted-by":"publisher","first-page":"925","DOI":"10.2337\/db10-1334","volume":"60","author":"I Huang-Doran","year":"2011","unstructured":"\u2022\u2022 Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, et al. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes. 2011;60(3):925\u201335. This paper describes the insulin resistance issues in MOPDII.","journal-title":"Diabetes"},{"issue":"2","key":"348_CR46","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1002\/pbc.24783","volume":"61","author":"S Unal","year":"2014","unstructured":"Unal S, Alanay Y, Cetin M, Boduroglu K, Utine E, Cormier-Daire V, et al. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatr Blood Cancer. 2014;61(2):302\u20135.","journal-title":"Pediatr Blood Cancer"},{"issue":"5864","key":"348_CR47","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.1151174","volume":"319","author":"A Rauch","year":"2008","unstructured":"\u2022 Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008;319(5864):816\u20139. One of the original papers reporting the gene responsible for MOPDII.","journal-title":"Science"},{"key":"348_CR48","unstructured":"Bober MB, Duker AL, Jackson AP, Murray J. Microcephalic osteodysplastic primordial dwarfism Type II. Orphanet. 2014."},{"issue":"2","key":"348_CR49","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1038\/ng.2007.80","volume":"40","author":"E Griffith","year":"2008","unstructured":"\u2022 Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008;40(2):232\u20136. One of the original papers reporting the gene responsible for MOPDII.","journal-title":"Nat Genet"},{"issue":"11","key":"348_CR50","doi-asserted-by":"publisher","first-page":"2452","DOI":"10.1002\/ajmg.a.33035","volume":"149A","author":"M Piane","year":"2009","unstructured":"Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A. 2009;149A(11):2452\u20136.","journal-title":"Am J Med Genet A"},{"issue":"9","key":"348_CR51","doi-asserted-by":"publisher","first-page":"3667","DOI":"10.1091\/mbc.E06-07-0604","volume":"18","author":"JE Sillibourne","year":"2007","unstructured":"Sillibourne JE, Delaval B, Redick S, Sinha M, Doxsey SJ. Chromatin remodeling proteins interact with pericentrin to regulate centrosome integrity. Mol Biol Cell. 2007;18(9):3667\u201380.","journal-title":"Mol Biol Cell"},{"issue":"1","key":"348_CR52","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/j.beem.2010.10.015","volume":"25","author":"A Rauch","year":"2011","unstructured":"Rauch A. The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab. 2011;25(1):125\u201330.","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"348_CR53","doi-asserted-by":"crossref","unstructured":"\u2022\u2022 Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. American journal of medical genetics Part A. 2012. This paper provides detailed information regarding growth of individuals with MOPDII.","DOI":"10.1002\/ajmg.a.35447"},{"key":"348_CR54","doi-asserted-by":"crossref","unstructured":"Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, et al. Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency. J Pediatr Endocr Met 2013.","DOI":"10.1515\/jpem-2012-0397"},{"issue":"4","key":"348_CR55","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1002\/ajmg.10589","volume":"111","author":"PN Kantaputra","year":"2002","unstructured":"Kantaputra PN. Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet. 2002;111(4):420\u20138.","journal-title":"Am J Med Genet"},{"issue":"2","key":"348_CR56","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1002\/ajmg.a.30079","volume":"130A","author":"PN Kantaputra","year":"2004","unstructured":"Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A. 2004;130A(2):181\u201390.","journal-title":"Am J Med Genet A"},{"key":"348_CR57","doi-asserted-by":"crossref","unstructured":"Hall JG. Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181\u2013190]. American journal of medical genetics Part A. 2005;135(1):114; author reply 5.","DOI":"10.1002\/ajmg.a.30633"},{"issue":"6","key":"348_CR58","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1097\/BPO.0000000000000183","volume":"34","author":"AF Karatas","year":"2014","unstructured":"\u2022\u2022 Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG. Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J Pediatr Orthop. 2014;34(6):585\u201390. This paper provides a systematic overview of hip dysplasia in MOPDII patients.","journal-title":"J Pediatr Orthop"},{"issue":"1","key":"348_CR59","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/ajmg.10716","volume":"113","author":"R Fukuzawa","year":"2002","unstructured":"Fukuzawa R, Sato S, Sullivan MJ, Nishimura G, Hasegawa T, Matsuo N. Autopsy case of microcephalic osteodysplastic primordial \u201cdwarfism\u201d type II. Am J Med Genet. 2002;113(1):93\u20136.","journal-title":"Am J Med Genet"},{"issue":"1","key":"348_CR60","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/ajmg.a.30086","volume":"128A","author":"P Kannu","year":"2004","unstructured":"Kannu P, Kelly P, Aftimos S. Microcephalic osteodysplastic primordial dwarfism type II: a child with cafe au lait lesions, cutis marmorata, and moyamoya disease. Am J Med Genet A. 2004;128A(1):98\u2013100.","journal-title":"Am J Med Genet A"},{"key":"348_CR61","doi-asserted-by":"crossref","unstructured":"Rigter LS, El Moumni M, Ten Duis HJ, Wendt KW. Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. Eur J Pediatr Surg 2012.","DOI":"10.1055\/s-0032-1315810"},{"issue":"3","key":"348_CR62","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1002\/ajmg.a.10230","volume":"117A","author":"G Nishimura","year":"2003","unstructured":"Nishimura G, Hasegawa T, Fujino M, Hori N, Tomita Y. Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease. Am J Med Genet A. 2003;117A(3):299\u2013301.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"348_CR63","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1002\/ajmg.a.20647","volume":"127A","author":"ID Young","year":"2004","unstructured":"Young ID, Barrow M, Hall CM. Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease: another patient. Am J Med Genet A. 2004;127A(2):218\u201320.","journal-title":"Am J Med Genet A"},{"issue":"5","key":"348_CR64","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1159\/000322017","volume":"46","author":"P Moftakhar","year":"2010","unstructured":"Moftakhar P, Smith ER, Choulakian A, Scott RM, Danielpour M. Moyamoya disease in children with congenital dwarfing conditions. Pediatr Neurosurg. 2010;46(5):373\u201380.","journal-title":"Pediatr Neurosurg"},{"key":"348_CR65","doi-asserted-by":"crossref","unstructured":"Kilic E, Utine E, Unal S, Haliloglu G, Oguz KK, Cetin M, et al. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). Eur J Pediatr 2012.","DOI":"10.1007\/s00431-012-1732-6"},{"issue":"4","key":"348_CR66","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1016\/j.pediatrneurol.2012.12.010","volume":"48","author":"LD Perry","year":"2013","unstructured":"\u2022\u2022 Perry LD, Robertson F, Ganesan V. Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. Pediatr Neurol. 2013;48(4):294\u20138. This paper provides a systematic approach to neurovascular screening in MOPDII.","journal-title":"Pediatr Neurol"},{"key":"348_CR67","doi-asserted-by":"crossref","unstructured":"Rao G. Diagnosis, epidemiology, and management of hypertension in children. Pediatrics. 2016;138(2).","DOI":"10.1542\/peds.2015-3616"},{"issue":"3","key":"348_CR68","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1111\/j.1525-1470.2008.00698.x","volume":"25","author":"N Webber","year":"2008","unstructured":"Webber N, O'Toole EA, Paige DG, Rosser E. Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. Pediatr Dermatol. 2008;25(3):401\u20132.","journal-title":"Pediatr Dermatol"}],"updated-by":[{"DOI":"10.1007\/s11914-017-0389-5","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2017,7,15]],"date-time":"2017-07-15T00:00:00Z","timestamp":1500076800000}}],"container-title":["Current Osteoporosis Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11914-017-0348-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-017-0348-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-017-0348-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T03:37:10Z","timestamp":1692761830000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11914-017-0348-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":68,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["348"],"URL":"https:\/\/doi.org\/10.1007\/s11914-017-0348-1","relation":{},"ISSN":["1544-1873","1544-2241"],"issn-type":[{"value":"1544-1873","type":"print"},{"value":"1544-2241","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4]]},"assertion":[{"value":"13 April 2017","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 July 2017","order":2,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Erratum","order":3,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"An erratum to this article has been published.","order":4,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"Michael Bober reports grants and other from Walking With Giants Foundation, grants from Potentials Foundation, outside the submitted work. Andrew Jackson\u2019s work is supported by funding from MRC and ERC (281847).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This article does not contain any studies with human or animal subjects performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}