Atélostéogenèse of the type II

The standard atélostéogenèse 2 is a lethal nanism with a particular facies. The clinical picture includes/understands by a shortening of the members with a cranium of normal size, a deviated inch pointing out the aspect of the making inch of hitch-hiking, small thorax with a prominent abdomen

Description

The pregnancy is often complicated of Hydramnios The newborn dies quickly after the birth by pulmonary hypoplasy and/or trachéomalacie
  • Faciés characteristic including/understanding
    • Hypertélorisme
    • Hypoplasie mandibulaire
    • Epicanthus
    • short Cou
  • Raccourcissement of the members especially rhizomelic (reaching the femur and the humérus)
  • Crâne of normal size
  • Déformation of the characteristic inches
  • Petit Thorax
  • prominent Abdomen
  • labial Division is quasi constant
  • Kystes of the house of the ear in 2/3 of the cases
  • cubital Déviation of the fingers
  • Ecart between 2nd and 3rd toes
  • Club-foot

Diagnosis

Private clinic

In addition to the clinical signs, osseous radiographies make it possible to find very evocative signs of pathology

Histology

Find the signs of absence of protéoglycanes sulfate in the cartilage. The defect of incorporation of the protéoglycanes sulfate can be highlighted by the culture of fibroblast

Genetics

  • in situ Hybridation by fluorescence allows the diagnosis in 65% of the cases by highlighting the five most frequent changes of the gene SLC26A2 .
  • sequential Analyze allows the diagnosis in 90% of the cases

Differential diagnosis

In addition to the diseases which are in connection with the change of the gene SLC26A2 , the others létaux nanisms can be discussed mainly as well as the others standard Atélostéogenèses
  • Atélostéogenèse 1
  • standard Atélostéogenèse 3

Prenatal diagnosis

Pregnancy with bottom risks

  • the echographic diagnosis is possible

High-risk pregnancy

  • the diagnosis by in situ Hybridation by fluorescence is possible after biopsy of trophoblaste or Amniocentèse if the change is known at the paretns

Sources

  • Site of information on the orphan rare diseases and drugs
  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005

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