Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! By
Brachydactyly Mental Retardation Syndrome With Growth Hormone Deficiency Publisher



Arefzadeh A1 ; Khalighinejad P2 ; Ataeinia B3 ; Parvar P4
Authors

Source: Endocrinology# Diabetes and Metabolism Case Reports Published:2018


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. © 2018 The authors.
Related Docs
View other Related Docs
1. B3galnt2 Mutations Associated With Non-Syndromic Autosomal Recessive Intellectual Disability Reveal a Lack of Genotype-Phenotype Associations in the Muscular Dystrophy-Dystroglycanopathies, Genome Medicine (2017)
2. Hyperphosphatemic Familial Tumoral Calcinosis Caused by a Novel Variant in the Galnt3 Gene, Journal of Endocrinological Investigation (2020)
3. A Novel Mutation in Snx10 Gene Causes Malignant Infantile Osteopetrosis, Avicenna Journal of Medical Biotechnology (2017)
Experts (# of related papers)
View all Related Experts
Arya Sotoudeh (3)
Nima Rezaei (2)
Other Related Docs
4. A Family With Novel X-Linked Recessive Homozygous Mutation in Anos1 (C.628_629 Del, P.1210Fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature Review, AACE Clinical Case Reports (2021)
5. Novel Pyrroline-5-Carboxylate Reductase 2 (Pycr2) Mutation in an Iranian Patient With Hypomyelinating Leukodystrophy: Findings of Molecular and in Silico Investigations, Egyptian Journal of Medical Human Genetics (2023)
6. A 3-Year-Old Boy With an Xp21 Deletion Syndrome: A Case Report, Endocrine# Metabolic and Immune Disorders - Drug Targets (2022)
7. Four Mutations in Mitf, Sox10 and Pax3 Genes Were Identified As Genetic Causes of Waardenburg Syndrome in Four Unrelated Iranian Patients: Case Report, BMC Pediatrics (2021)
8. Autosomal Recessive Congenital Ichthyosis: Cers3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes, European Journal of Human Genetics (2017)
9. A New Case of Chanarin-Dorfman Syndrome With a Novel Deletion in Abhd5 Gene, Iranian Biomedical Journal (2018)
10. Clinical Presentation and Wes Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (Syns2, Farhud Type), Iranian Journal of Public Health (2024)
11. Kleefstra Syndrome: The First Case Report From Iran, Acta Medica Iranica (2017)
12. High Occurrence of a Missense Variant (C.471C>A) in the Fgf23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect, Human Mutation (2025)
13. A Novel Mutation in the Pax3 Gene Causes Waardenburg Syndrome Type I in an Iranian Family, International Journal of Pediatric Otorhinolaryngology (2015)
14. The Role of Thyroid Function Tests in Diagnosing Allan-Herndon-Dudley Syndrome Revisited: A Novel Iran-Based Mutation, Basic and Clinical Neuroscience (2021)
15. Novel Homozygous Mutation in the Agpat2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome, Acta Medica Iranica (2018)
16. Molecular Genetics of a Cohort of 635 Cases of Phenylketonuria in a Consanguineous Population, Journal of Inherited Metabolic Disease (2018)
17. Methenyltetrahydrofolate Synthease Deficiency (Mthfs Deficiency): Novel Mutation and Brain Mri Findings: A Case Report and Glance to Other Cases, Clinical Neurology and Neurosurgery (2022)
18. Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female With Mulibrey Nanism: A Case Report, Iranian Journal of Public Health (2022)
19. Hyperostosis-Hyperphosphatemia Syndrome (Hhs): Report of Two Cases With a Recurrent Mutation and Review of the Literature, Journal of Pediatric Endocrinology and Metabolism (2015)
20. Hypotrichosis With Juvenile Macular Dystrophy: Combination of Whole-Genome Sequencing and Genome-Wide Homozygosity Mapping Identifies a Large Deletion in Cdh3 Initially Undetected by Whole-Exome Sequencing—A Lesson From Next-Generation Sequencing, Molecular Genetics and Genomic Medicine (2019)