Brachydactyly mental retardation syndrome with growth hormone deficiency

(2018) Brachydactyly mental retardation syndrome with growth hormone deficiency. Endocrinology Diabetes and Metabolism Case Reports.

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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.

Item Type: Article
Keywords: pseudohypoparathyroidism type ia terminal deletion phenotype 2q37.3 individuals diagnosis tumor
Divisions: Faculty of Medicine
Journal or Publication Title: Endocrinology Diabetes and Metabolism Case Reports
Journal Index: ISI
Identification Number: Artn 180068 10.1530/Edm-18-0068
Depositing User: Zahra Otroj
URI: http://eprints.mui.ac.ir/id/eprint/9313

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