Acromesomelic dysplasia Maroteaux type

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Classification according to ICD-10
Q77.8 Other osteochondrodysplasias with growth disorders of the long bones and the spine
ICD-10 online (WHO version 2019)

The Akromesomele dysplasia type Maroteaux (AMDM) is a form of very rare to the innate skeletal dysplasias associated akromesomelen dysplasia .

Synonym: St. Helena Dysplasia

The first description and name was given in 1971 by the Parisian pediatrician and human geneticist Pierre Maroteaux (* 1926) and colleagues. The clinical picture described is now known as the Maroteaux type. On the island of St. Helena , I. Shine described a group of sick people in 1970.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

At least in more severe forms, the disease is based on mutations in the NPR2 gene on chromosome 9 locus p13.3, which codes for the natriuretic transmembrane receptor B and is important for skeletal growth.

Clinical manifestations

Clinical criteria are:

  • Disproportionate stature , especially short forearms, hands, lower legs and feet
  • already present at birth, increasing in the course of growth
  • Adult height between 97 and 130 cm
  • prominent forehead, sunken nose
  • Hyperextensible joints, loose subcutaneous tissue
  • Spinal changes with thoracic hyphosis , lumbar lordosis

diagnosis

The diagnosis is based on clinical and radiological findings (very short, narrow tubular bones (hand / foot), shortening and curvature of the ulna and radius with dislocation and additional platyspondyly ) and the genetic examination .

literature

  • NU Ain, M. Iqbal, H. Valta, CA Emerling, S. Ahmed, O. Makitie, S. Naz: Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux. In: European journal of medical genetics. [Electronic publication before printing] October 2018, doi: 10.1016 / j.ejmg.2018.10.006 , PMID 30359775 .
  • WD Lin, CH Wang, FJ Tsai: Identification of one novel homozygous mutation in the NPR2 gene in a patient from Taiwan with acromesomelic dysplasia Maroteaux type. In: Pediatrics and neonatology. Volume 59, number 3, 06 2018, pp. 322–323, doi: 10.1016 / j.pedneo.2017.11.017 , PMID 29503224 .
  • P. Srivastava, M. Tuteja, A. Dalal, K. Mandal, S. R Phadke: Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. In: Journal of genetics. Volume 95, Number 4, December 2016, pp. 905-909, PMID 27994189 .
  • M. Umair Irfanullah, WA Saadullah Khan, W. Ahmad: Homozygous sequence variants in the NPR2 gene underlying Acromesomelic dysplasia Maroteaux type (AMDM) in consanguineous families. In: Annals of Human Genetics. Volume 79, number 4, July 2015, pp. 238-244, doi: 10.1111 / ahg.12116 , PMID 25959430 .

Individual evidence

  1. ↑ a b c d Dysplasia, acromesomele, Maroteaux type. In: Orphanet (Rare Disease Database).
  2. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ^ P. Maroteaux, B. Martinelli, E. Campailla: Le nanisme acromésomélique. In: La Presse medicale. Volume 79, Number 42, October 1971, pp. 1839-1842, PMID 5000841 .
  4. ^ I. Shine: Serendipity in St. Helena: A Genetical and Medical Study of an Isolated Community. Oxford: Pergamon Press 1970.
  5. ↑ Acromesomelic dysplasia, Maroteaux type.  In: Online Mendelian Inheritance in Man . (English)

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