{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:19:51Z","timestamp":1707524391802},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,23]]},"DOI":"10.7759\/cureus.19829","type":"journal-article","created":{"date-parts":[[2021,11,23]],"date-time":"2021-11-23T12:20:56Z","timestamp":1637670056000},"source":"Crossref","is-referenced-by-count":0,"title":["Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl"],"prefix":"10.7759","author":[{"given":"Fadi","family":"Busaleh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haider","family":"Alnofaily","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussain A","family":"Al Ghadeer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatimah A","family":"Albahrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hibah A","family":"Alatiyyah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salwa B","family":"Alshaikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed M","family":"Alhamrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walaa","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumanah","family":"Alatiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawad","family":"Alnaqaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30203","article-title":"Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings","volume":"130A","author":"Hall JG","year":"2004","unstructured":"Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004, 130A:55-72. 10.1002\/ajmg.a.30203","journal-title":"Am J Med Genet A"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-017-0348-1","article-title":"Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review","volume":"15","author":"Bober MB","year":"2017","unstructured":"Bober MB, Jackson AP. Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep. 2017, 15:61-9. 10.1007\/s11914-017-0348-1","journal-title":"Curr Osteoporos Rep"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.04.002","article-title":"A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield","volume":"121","author":"Alfares A","year":"2017","unstructured":"Alfares A, Alfadhel M, Wani T, et al.. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab. 2017, 121:91-5. 10.1016\/j.ymgme.2017.04.002","journal-title":"Mol Genet Metab"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2018-224197","article-title":"Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene","volume":"12","author":"Alrajhi H","year":"2019","unstructured":"Alrajhi H, Alallah J, Shawli A, Alghamdi K, Hakami F. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. BMJ Case Rep. 2019, 12:e224197. 10.1136\/bcr-2018-224197","journal-title":"BMJ Case Rep"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.12.059","article-title":"Consensus based definition of growth restriction in the newborn","volume":"196","author":"Beune IM","year":"2018","unstructured":"Beune IM, Bloomfield FH, Ganzevoort W, et al.. Consensus based definition of growth restriction in the newborn. J Pediatr. 2018, 196:71-6.e1. 10.1016\/j.jpeds.2017.12.059","journal-title":"J Pediatr"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000053079","article-title":"Intrauterine growth restriction: definition and etiology","volume":"49 Suppl 2","author":"Wollmann HA","year":"1998","unstructured":"Wollmann HA. Intrauterine growth restriction: definition and etiology. Horm Res. 1998, 49 Suppl 2:1-6. 10.1159\/000053079","journal-title":"Horm Res"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430326","article-title":"Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome)","volume":"43","author":"Taybi H","year":"1992","unstructured":"Taybi H. Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). Am J Med Genet. 1992, 43:628-9. 10.1002\/ajmg.1320430326","journal-title":"Am J Med Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/00003081-200606000-00008","article-title":"Perinatal outcome and later implications of intrauterine growth restriction","volume":"49","author":"Pallotto EK","year":"2006","unstructured":"Pallotto EK, Kilbride HW. Perinatal outcome and later implications of intrauterine growth restriction. Clin Obstet Gynecol. 2006, 49:257-69. 10.1097\/00003081-200606000-00008","journal-title":"Clin Obstet Gynecol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/jch.12528","article-title":"Characteristics of systemic hypertension in preterm children","volume":"17","author":"Shah AB","year":"2015","unstructured":"Shah AB, Hashmi SS, Sahulee R, Pannu H, Gupta-Malhotra M. Characteristics of systemic hypertension in preterm children. J Clin Hypertens (Greenwich). 2015, 17:364-70. 10.1111\/jch.12528","journal-title":"J Clin Hypertens (Greenwich)"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120104","article-title":"Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism","volume":"12","author":"Majewski F","year":"1982","unstructured":"Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet. 1982, 12:23-35. 10.1002\/ajmg.1320120104","journal-title":"Am J Med Genet"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33252","article-title":"Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype","volume":"152A","author":"Bober MB","year":"2010","unstructured":"Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A. 2010, 152A:960-5. 10.1002\/ajmg.a.33252","journal-title":"Am J Med Genet A"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.12.010","article-title":"Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal","volume":"48","author":"Perry LD","year":"2013","unstructured":"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, 48:294-8. 10.1016\/j.pediatrneurol.2012.12.010","journal-title":"Pediatr Neurol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.5144\/0256-4947.2001.174","article-title":"G6PD deficiency, distribution and variants in Saudi Arabia: an overview","volume":"21","author":"Warsy AS","year":"2001","unstructured":"Warsy AS, El-Hazmi MA. G6PD deficiency, distribution and variants in Saudi Arabia: an overview. Ann Saudi Med. 2001, 21:174-7. 10.5144\/0256-4947.2001.174","journal-title":"Ann Saudi Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/78061-microcephalic-osteodysplastic-primordial-dwarfism-type-ii-with-associated-glucose-6-phosphate-dehydrogenase-deficiency-in-a-saudi-girl","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:31:19Z","timestamp":1707507079000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/78061-microcephalic-osteodysplastic-primordial-dwarfism-type-ii-with-associated-glucose-6-phosphate-dehydrogenase-deficiency-in-a-saudi-girl"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,23]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.19829","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2021,11,23]]}}}