Congenital deformities of the neck

Pterygium colli in a child with Turner syndrome

Pterygium colli (congenital fold of the neck) occurs in some syndromes:

Turner syndrome
  • in women, caryotype 45,X
  • pterygia, infantilismus, cubiti valgi, ovarial agenesis
  • endocrinological treatment + surgical correction of pterygium (Z-plastic)
Ullrich-Noonan syndrome
  • sex-chromatin positive Turner syndrome
  • conditioned by mutation of the PTPN11 gene, AD heritability, women and men
  • manifestations and treatment identical to Turner's syndrome
Torticollis

Congenital muscular torticollis is caused by the shortening of the m. sternocleidomastoideus with the head tilted towards the affected side.

  • In general, torticollis can be congenital or acquired (ocular, neurogenic, psychogenic, secondary to infection or trauma);
  • etiology of congenital torticollis: is not precisely known (muscle rupture, intrauterine malposition, pressure, ischemia, genetic factors); the incidence is around 0.4%; it manifests 2 weeks after birth, the swelling increases within 4 months;
  • The treatment is surgical: total extirpation of the fibrotic sternocleidomastoid muscle, upper / lower tenotomy of the muscle insertion, Ferkel's surgery (Z-plasty of the muscle with its lengthening).


Used literature

  • MĚŠŤÁK, Jan. Úvod do plastické chirurgie. 1. edition. Univerzita Karlova v Praze - Nakladatelství Karolinum, 2005. 125 pp. ISBN 80-246-1150-3.