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Arefzadeh A, Khalighinejad P, Ataeinia B, et al. Brachydactyly mental retardation syndrome with growth hormone deficiency. Endocrinol Diabetes Metab Case Rep. 2018;2018doi: 10.1530/EDM-18-0068.
Arefzadeh, A., Khalighinejad, P., Ataeinia, B., & Parvar, P. (2018). Brachydactyly mental retardation syndrome with growth hormone deficiency. Endocrinology, diabetes & metabolism case reports, 2018. https://doi.org/10.1530/EDM-18-0068
Arefzadeh, Alireza, et al. "Brachydactyly mental retardation syndrome with growth hormone deficiency." Endocrinology, diabetes & metabolism case reports vol. 2018 (2018). doi: https://doi.org/10.1530/EDM-18-0068
Arefzadeh A, Khalighinejad P, Ataeinia B, Parvar P. Brachydactyly mental retardation syndrome with growth hormone deficiency. Endocrinol Diabetes Metab Case Rep. 2018 Jul 21;2018. doi: 10.1530/EDM-18-0068. eCollection 2018. PMID: 30087780; PMCID: PMC6063990.
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Endocrinol Diabetes Metab Case Rep. 2018 Jul 21;2018. doi: 10.1530/EDM-18-0068. eCollection 2018.

Brachydactyly mental retardation syndrome with growth hormone deficiency.

Endocrinology, diabetes & metabolism case reports

Alireza Arefzadeh, Pooyan Khalighinejad, Bahar Ataeinia, Pegah Parvar

Affiliations

  1. Endocrinology Department, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  2. School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  3. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  4. School of Medicine, Islamic Azad University Medical Branch of Tehran, Tehran, Iran.

PMID: 30087780 PMCID: PMC6063990 DOI: 10.1530/EDM-18-0068

Abstract

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.

LEARNING POINTS: Clinicians must have brachydactyly mental retardation (BDMR) syndrome in consideration when they are faced with the features of Albright hereditary osteodystrophy.Although BDMR syndrome is a rare disease, it should be ruled out while diagnosing PPHP or PHP-Ia.Evaluation of IGF1 level in patients diagnosed with BDMR whose height is below the 3rd percentile is important.

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