Trisomy 18

The syndrome of Edwards , also called trisomy 18 is a chromosomal Maladie congenital caused by the presence of a supernumerary chromosome for the even 18 {{E}}. This malformatif syndrome results in an early death most of the time. This disease was described by the Généticien English John H. Edwards in an article of 1960.

Noted anomalies

One can observe at the babies reached of many physical anomalies on the level of the Cœur and the Squelette.

Moreover, one notes a bad development of the Muscle S, a deformation of the Main, feet (they are abnormally perpendicular to the leg segment), as well as a malformation of the ears (ears faun-like) and a deep backwardness, an important hypotrophie. All that is associated with very many visceral malformations which are generally lethal before 6 months.

Trisomy 18 touches a birth on 9000, and the children reached survive generally only a few weeks. There are some described cases of patients having survived until the 5 years age. It is despite everything rarer than the trisomy 21 which is most frequent and most viable of trisomies. However, it is as trisomy 13 much more serious than trisomy 21 because the majority of the cases dies in utéro before 6 months.

Facial Dysmorphie cranio

  • Dolichocéphalie (occiput projecting and SAYS short)
  • Petite Mouth. Micrognathie
  • faun-like Ears: little hemmed, flat, pointed houses in their upper part.

Neck-Thorax-abdomen

  • Cou runs
  • Etroitesse of the basin

Members

  • characteristic Hands: closed fists, index recovers the third finger, the fifth recovers the fourth.
  • Attitude of begging - foot in ice axe.

Malformations

Random links:Auguste Count | Saab | Raoul-Adrien Fréard of the Manor house | Paul Granet | Route main road 437b | Kawah Ijen | Poisson-hibou_de_Brown