Cargando…

Brachydactyly mental retardation syndrome with growth hormone deficiency

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 o...

Descripción completa

Detalles Bibliográficos
Autores principales:	Arefzadeh, Alireza, Khalighinejad, Pooyan, Ataeinia, Bahar, Parvar, Pegah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2018
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063990/ https://www.ncbi.nlm.nih.gov/pubmed/30087780 http://dx.doi.org/10.1530/EDM-18-0068

Ejemplares similares

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
por: Stoyle, George, et al.
Publicado: (2018)

Growth hormone and insulin-like growth factor 1 affect the severity of Graves’ disease
por: Di Cerbo, Alfredo, et al.
Publicado: (2017)

A rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome
por: Del Prete, Michela, et al.
Publicado: (2021)

A case of a co-secreting TSH and growth hormone pituitary adenoma presenting with a thyroid nodule
por: Adams, Laura Hamilton, et al.
Publicado: (2018)

Two rare manifestations of primary hyperparathyroidism: paralysis and peptic ulcer bleeding
por: Heidarpour, Maryam, et al.
Publicado: (2017)

Regression from stage 3 to stage 2 type 1 diabetes mellitus after discontinuing growth hormone therapy
por: Fischer, Micah A, et al.
Publicado: (2023)

Coexistence of resistance to thyroid hormone and papillary thyroid carcinoma
por: Igata, Motoyuki, et al.
Publicado: (2016)

Hypoglycemia after bariatric surgery: importance of exhaustive hormonal study
por: Perez-Montes de Oca, Alejandra, et al.
Publicado: (2021)

A man with a worrying potassium deficiency
por: Tabasum, A, et al.
Publicado: (2014)

Adrenal insufficiency in a child following unilateral excision of a dual-hormone secreting phaeochromocytoma
por: Sjoeholm, Annika, et al.
Publicado: (2015)

Resistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male
por: Al Mohareb, Ohoud, et al.
Publicado: (2018)

Hypercalcaemia secondary to hypophysitis and cortisol deficiency: another immunotherapy-related adverse event
por: Miller, Samuel R, et al.
Publicado: (2022)

Idiopathic central precocious puberty with Prader–Willi syndrome: pubertal development with discontinuation of gonadotropin-releasing hormone analog
por: Kobayashi, Mami, et al.
Publicado: (2022)

Ectopic adrenocorticotrophic hormone syndrome secondary to treatment-related neuroendocrine differentiation of metastatic castrate-resistant prostate cancer
por: Tan, Chelsea, et al.
Publicado: (2022)

Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene
por: Vaidyanathan, Priya, et al.
Publicado: (2018)

LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents
por: Ahern, Susan, et al.
Publicado: (2018)

Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
por: Bouça, Bruno, et al.
Publicado: (2023)

A serious and unusual presentation of congenital isolated ACTH deficiency due to TBX19 mutation, beyond the neonatal period
por: Vieira, Inês Henriques, et al.
Publicado: (2022)

First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency
por: Lai, Valerie, et al.
Publicado: (2023)

17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
por: Deeb, Asma, et al.
Publicado: (2015)

Hobnail variant of papillary thyroid carcinoma showing goiter-like presentation and rapid growth
por: Naciu, Anda Mihaela, et al.
Publicado: (2021)

A case of a woman with late-pregnancy-onset DKA who had normal glucose tolerance in the first trimester
por: Himuro, Hiromi, et al.
Publicado: (2014)

Paraneoplastic hypoglycemia in a patient with a malignant solitary fibrous tumor
por: Mohammedi, Kamel, et al.
Publicado: (2014)

Two patients with a neuroendocrine tumour of the small intestine and paraneoplastic myasthenia gravis
por: Hermans, M A W, et al.
Publicado: (2014)

Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia
por: Rajpoot, Sudeep K, et al.
Publicado: (2014)

Phaeochromocytoma and Acromegaly: a unifying diagnosis
por: Mumby, C, et al.
Publicado: (2014)

IgG4-related thyroiditis: a case report and review of literature
por: Abo Salook, Mahmud, et al.
Publicado: (2014)

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy
por: Pikilidou, Maria, et al.
Publicado: (2014)

Bacterial meningitis as a first presentation of pituitary macroprolactinoma
por: Margari, Niki, et al.
Publicado: (2014)

Recurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet
por: Gunganah, Kirun, et al.
Publicado: (2014)

Burkitt's lymphoma presenting with hypopituitarism: a case report and review of literature
por: Foo, Siew Hui, et al.
Publicado: (2014)

A case of pituitary apoplexy in pregnancy
por: Hayes, Aimee R, et al.
Publicado: (2014)

Primary hyperparathyroidism due to atypical vertically long cystic adenoma
por: Kawashima, Sachiko-Tsukamoto, et al.
Publicado: (2014)

Synchronous GH- and prolactin-secreting pituitary adenomas
por: Rahman, Maryam, et al.
Publicado: (2014)

Rare association of acromegaly with left atrial myxoma in Carney's complex due to novel PRKAR1A mutation
por: Birla, Shweta, et al.
Publicado: (2014)

A ‘giant’ paraganglioma in the testis
por: Makris, Marinos C, et al.
Publicado: (2014)

Phaeochromocytoma presenting with polyuria: an uncommon presentation of a rare tumour
por: Atapattu, N, et al.
Publicado: (2014)

Glucagonoma-induced acute heart failure
por: Zhang, Kun, et al.
Publicado: (2014)

A silent myocardial infarction in the diabetes outpatient clinic: case report and review of the literature
por: Draman, M S, et al.
Publicado: (2013)

Cushing's syndrome due to ectopic ACTH production by a nasal paraganglioma
por: Serra, F, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_auleog062g071v5ogdnuouo68a