{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:47Z","timestamp":1784557007904,"version":"3.55.0"},"reference-count":42,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,7,21]],"date-time":"2018-07-21T00:00:00Z","timestamp":1532131200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,7,21]]},"abstract":"Summary<\/jats:title>\n Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm of chromosome 2 [del(2)(q37.3)] who had growth hormone (GH) deficiency, which is a unique feature among reported BDMR cases. This case was presented with shortening of the fourth and fifth metacarpals which along with AHO phenotype, brings pseudopseudohypoparathyroidism (PPHP) and pseudohypoparathyroidism type Ia (PHP-Ia) to mind; however, a genetic study revealed del(2)(q37.3). We recommend clinicians to take BDMR in consideration when they are faced with the features of AHO; although this syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia. Moreover, we recommend evaluation of IGF 1 level and GH stimulation test in patients with BDMR whose height is below the 3rd percentile.<\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n Clinicians must have brachydactyly mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.<\/jats:p>\n <\/jats:list-item>\n \n Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.<\/jats:p>\n <\/jats:list-item>\n \n Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-18-0068","type":"journal-article","created":{"date-parts":[[2018,7,20]],"date-time":"2018-07-20T23:44:12Z","timestamp":1532130252000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Brachydactyly mental retardation syndrome with growth hormone deficiency"],"prefix":"10.1530","volume":"2018","author":[{"given":"Alireza","family":"Arefzadeh","sequence":"first","affiliation":[{"name":"1Endocrinology Department, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooyan","family":"Khalighinejad","sequence":"additional","affiliation":[{"name":"2School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bahar","family":"Ataeinia","sequence":"additional","affiliation":[{"name":"3School of Medicine, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pegah","family":"Parvar","sequence":"additional","affiliation":[{"name":"4School of Medicine, Islamic Azad University Medical Branch of Tehran, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref111","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.2003.017202","article-title":"Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes","volume":"41","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1159\/000431389","article-title":"2q37.3 deletion syndrome: two cases with highly distinctive facial phenotype, discordant association with schizophrenic psychosis, and shared deletion breakpoint region on 2q37.3","volume":"146","year":"2015","journal-title":"Cytogenetic and Genome Research"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1210\/jc.2011-1048","article-title":"Clinical review: pseudohypoparathyroidism: diagnosis and treatment","volume":"96","year":"2011","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"5011","DOI":"10.1210\/jc.2010-1649","article-title":"Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth","volume":"95","year":"2010","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref271","year":"2003","journal-title":"Reeder and Felson\u2019s Gamuts in Radiology: Comprehensive Lists of Roentgen Differential Diagnosis"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.2005.036350","article-title":"Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities","volume":"43","year":"2006","journal-title":"Journal of Medical Genetics"},{"key":"ref251","first-page":"793","article-title":"Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism","volume":"26","year":"2013","journal-title":"Journal of Pediatric Endocrinology and Metabolism"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1002\/ajmg.a.30156","article-title":"Chromosome 2q terminal deletion:report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals","volume":"130A","year":"2004","journal-title":"American Journal of Medical Genetics Part A"},{"key":"ref221","first-page":"400","article-title":"Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37","volume":"56","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"184","DOI":"10.4103\/0970-4388.57101","article-title":"Albright hereditary osteodystrophy: a rare case report","volume":"27","year":"2009","journal-title":"Journal of Indian Society of Pedodontics and Preventive Dentistry"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2012.230","article-title":"The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients","volume":"21","year":"2013","journal-title":"European Journal of Human Genetics"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"129","DOI":"10.6065\/apem.2017.22.2.129","article-title":"2q37 deletion syndrome confirmed by high-resolution cytogenetic analysis","volume":"22","year":"2017","journal-title":"Annals of Pediatric Endocrinology and Metabolism"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/ejhg.2012.240","article-title":"Phenotypic variant of brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4","volume":"21","year":"2013","journal-title":"European Journal of Human Genetics"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ejmg.2006.09.004","article-title":"Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion","volume":"50","year":"2007","journal-title":"European Journal of Medical Genetics"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/mgg3.117","article-title":"A positive genotype-phenotype correlation in a large cohort of patients with pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene","volume":"3","year":"2015","journal-title":"Molecular Genetics and Genomic Medicine"},{"key":"ref141","first-page":"2124","article-title":"Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2","volume":"158","year":"2012","journal-title":"American Journal of Medical Genetics Part 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Genomics"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ejmg.2006.09.004","article-title":"Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion","volume":"50","year":"2007","journal-title":"European Journal of Medical Genetics"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"5985","DOI":"10.1158\/1078-0432.CCR-09-1065","article-title":"Loss of heterozygosity at 2q37 in sporadic Wilms\u2019 tumor: putative role for miR-562","volume":"15","year":"2009","journal-title":"Clinical Cancer Research"},{"key":"ref451","first-page":"400","article-title":"Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37","volume":"56","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"ref371","first-page":"2124","article-title":"Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2","volume":"158","year":"2012","journal-title":"American Journal of Medical Genetics Part A"},{"key":"ref21","first-page":"793","article-title":"Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism","volume":"26","year":"2013","journal-title":"Journal of Pediatric Endocrinology and Metabolism"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/ejhg.2012.230","article-title":"The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients","volume":"21","year":"2013","journal-title":"European Journal of Human Genetics"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"184","DOI":"10.4103\/0970-4388.57101","article-title":"Albright hereditary osteodystrophy: a rare case report","volume":"27","year":"2009","journal-title":"Journal of Indian Society of Pedodontics and Preventive Dentistry"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems","volume":"87","year":"2010","journal-title":"American Journal of Human Genetics"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/mgg3.117","article-title":"A positive genotype-phenotype correlation in a large cohort of patients with pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene","volume":"3","year":"2015","journal-title":"Molecular Genetics and Genomic Medicine"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1755-8794-7-19","article-title":"Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome","volume":"7","year":"2014","journal-title":"BMC Medical Genomics"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1159\/000431389","article-title":"2q37.3 deletion syndrome: two cases with highly distinctive facial phenotype, discordant association with schizophrenic psychosis, and shared deletion breakpoint region on 2q37.3","volume":"146","year":"2015","journal-title":"Cytogenetic and Genome Research"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.2003.017202","article-title":"Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes","volume":"41","year":"2004","journal-title":"Journal of Medical Genetics"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/ejhg.2012.240","article-title":"Phenotypic variant of brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4","volume":"21","year":"2013","journal-title":"European Journal of Human Genetics"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"5011","DOI":"10.1210\/jc.2010-1649","article-title":"Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth","volume":"95","year":"2010","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems","volume":"87","year":"2010","journal-title":"American Journal of Human Genetics"},{"key":"ref361","year":"2013","journal-title":"2q37 Microdeletion Syndrome"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","article-title":"Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems","volume":"87","year":"2010","journal-title":"American Journal of Human Genetics"},{"key":"ref131","year":"2013","journal-title":"2q37 Microdeletion Syndrome"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"5985","DOI":"10.1158\/1078-0432.CCR-09-1065","article-title":"Loss of heterozygosity at 2q37 in sporadic Wilms\u2019 tumor: putative role for miR-562","volume":"15","year":"2009","journal-title":"Clinical Cancer Research"},{"key":"ref41","year":"2003","journal-title":"Reeder and Felson\u2019s Gamuts in Radiology: Comprehensive Lists of Roentgen Differential Diagnosis"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1210\/jc.2011-1048","article-title":"Clinical review: pseudohypoparathyroidism: diagnosis and treatment","volume":"96","year":"2011","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"129","DOI":"10.6065\/apem.2017.22.2.129","article-title":"2q37 deletion syndrome confirmed by high-resolution cytogenetic analysis","volume":"22","year":"2017","journal-title":"Annals of Pediatric Endocrinology and Metabolism"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.2005.036350","article-title":"Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities","volume":"43","year":"2006","journal-title":"Journal of Medical Genetics"}],"container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2018\/1\/EDM18-0068.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2018\/1\/EDM18-0068.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:53Z","timestamp":1784555213000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3482"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,21]]},"references-count":42,"URL":"https:\/\/doi.org\/10.1530\/edm-18-0068","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,21]]}}}