Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood

Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. BDMR could be misdiagnosed as Albright hereditary osteodystrophy (AHO), because it presents with lack of hormone resistance to parathyroid hormone (PTH) and similar skeletal and craniofacial abnormalities; however, BDMR is far rarer and can present with a different phenotype. In some cases, BDMR patients exhibit malformations of the internal organs, which could cause life-threatening health issues. Associations have also been made between this chromosomal deletion and autism as well. We here report a case of BDMR with an AHO-like phenotype: mild mental retardation, along with normal calcium, phosphate, and PTH levels. Since our patient had a normal biochemical test, we considered pseudopseudohypoparathyroidism (PPHP) as the diagnosis and genetic testing was performed. Karyotype analysis showed deletion of the long q-arm of chromosome 2 in all analyzed cells-46 XX, del (2)(q37.1), which was consistent with BDMR. This deletion is a loss of around 100 genes that can present itself in various ways neurologically and physiologically, depending on the genes lost. However, because patients experience a range of symptoms such as autism, seizures, heart defects, brachydactyly, there could be unforeseen complications with BDMR. Therefore, we postulate that it is necessary to consider a diagnosis of BDMR in adults with AHO-like phenotype and normal calcium metabolism.