SciELO - Scientific Electronic Library Online

 
vol.90 número2Factores de riesgo y letalidad asociados a candidemia neonatal en una unidad de neonatologíaOrigen de epónimos médicos derivados de la mitología índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

Links relacionados

  • En proceso de indezaciónCitado por Google
  • No hay articulos similaresSimilares en SciELO
  • En proceso de indezaciónSimilares en Google

Compartir


Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

GUAPI NAUNAY, Víctor Hugo  y  MARTINEZ CARVAJAL, Iván Alejandro. Klippel-Feil autosomal dominant syndrome: a malformation of vertebral segmentation. Rev. chil. pediatr. [online]. 2019, vol.90, n.2, pp.194-201. ISSN 0370-4106.  http://dx.doi.org/10.32641/rchped.v90i2.779.

Introduction:

Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12pl3.31), GDF6 (chromosome 8q22.1), and MEOXI (chromosome 17q21.31).

Objective:

To describe the clinical-radiological findings and pedigree of a patient with Klippel-Feil syndrome.

Clinical case:

A 5-year-old patient with short neck, low posterior hairline, and limitation of lateral movements. The cervical flexion and extension radiographs showed fusion blocks between C1-2-3, C4-5, and C6-7. The chest CT scan showed multiple hemivertebrae in the upper third of the thoracic vertebrae corresponding to ribs 1-tv. The karyotype was normal, 46, XX. Reduced penetrance was present in five of the family members. The fusion of C2-3 was present in four members and one individual had low fusion in C5-6. Three of the five affected individuals had a fusion between the capitate and the hamate bone.

Conclusion:

The malformation of congenital vertebral segmentation is a case of interest since it is an uncommon diagnosis in the pediatric age and whose clinical suspicion can be generated from the clinical examination, radiological study com plemented with the pedigree interpretation in Mendelian inheritance disorders, allowing to provide opportunely genetic counseling to the family.

Palabras clave : Klippel-Feil syndrome; congenital abnormalities; cervical vertebrae; scoliosis.

        · resumen en Español     · texto en Español | Inglés     · Español ( pdf ) | Inglés ( pdf )