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Maroteaux type Acromesomelic dysplasia

Also Known As:

Acromesomelic dysplasia, Maroteaux type; Acromesomelic dwarfism Maroteux type

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Maroteaux type Acromesomelic dysplasia: 6

Related Diseases

1.	Obstructive Sleep Apnea
2.	Muscular Diseases (Myopathy)

Experts

1.	Olney, Robert C: 3 articles (04/2015 - 04/2006)
2.	Potter, Lincoln R: 2 articles (04/2015 - 04/2006)
3.	Warman, Matthew L: 2 articles (04/2015 - 04/2006)
4.	Espiner, Eric A: 2 articles (02/2015 - 04/2006)
5.	Prickett, Timothy C R: 2 articles (02/2015 - 04/2006)
6.	Bui, The-Hung: 1 article (01/2019)
7.	Cao, My Ha: 1 article (01/2019)
8.	Le, Phuong Thi: 1 article (01/2019)
9.	Luong, Long Hoang: 1 article (01/2019)
10.	Nguyen, Duc Hinh: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Maroteaux type Acromesomelic dysplasia:

1.	atrial natriuretic factor receptor BIBA 01/01/2019 - "Acromesomelic dysplasia Maroteaux-type is caused by homozygous or compound heterozygous pathogenic variants in NPR2 that encodes for natriuretic peptide receptor B. " 04/01/2015 - "Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic short stature (ISS). " 02/01/2015 - "In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function of the CNP receptor (natriuretic peptide receptor-B [NPR-B]), plasma levels of CNP were elevated. " 04/01/2006 - "Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive skeletal dysplasia, acromesomelic dysplasia, Maroteaux type (AMDM). "
2.	atrial natriuretic factor receptor CIBA 02/01/2015 - "In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), caused by loss-of-function of the CNP receptor (natriuretic peptide receptor-B [NPR-B]), plasma levels of CNP were elevated. " 04/01/2006 - "Loss-of-function mutations affecting the CNP receptor natriuretic peptide receptor-B (gene NPR2) cause the autosomal recessive skeletal dysplasia, acromesomelic dysplasia, Maroteaux type (AMDM). "

Therapies and Procedures

1.	Therapeutics 01/15/2013 - "A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type."
2.	General Anesthesia 08/01/2012 - "Management of general anesthesia for a patient with Maroteaux type acromesomelic dysplasia complicated with obstructive sleep apnea syndrome and hereditary myopathy."