title: [Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia].
abstract: BACKGROUND
  Typical clinical features of the Coffin-Lowry syndrome include facies with hypertelorism, small nose, wide mouth, full and everted lips; short stature, mental retardation, pectus deformity, mitral valve dysfunction, hippocampal and cerebellar involvement, hearing loss and spinal disorders such as kyphosis and scoliosis. Due to its scarce incidence, it is difficult making an early diagnosis. The aim of this report was to document the anatomical peculiarities identified during the surgical treatment of a patient with this syndrome.
  
  
  METHODS
  Male patient with Coffin-Lowry syndrome who evolved with narrow cervical canal plus myelomalacia at short age, making decompression from C3 to C6 and instrumentation from C2 to C7 necessary. During the surgery, in addition to calcification of the yellow ligament, adhesions on the dura mater from C4 to C4, dark purplish color in this area and hourglass-shaped thinning were found; the ends at C3 and C6 were normal. The purpose of the surgery was to stop the myopathy. Post-operatively, the patient had pulmonary complications; at the sixth day he passed away due to ventilatory complications and inadequate secretion control.
  
  
  CONCLUSIONS
  The Coffin-Lowry syndrome is a rare diagnosis in our country; neurological involvement at the spinal level is characterized by kyphosis or scoliosis; for its diagnosis, an adequate medical history and a karyotype are necessary.
authors.affiliation: Servicio de Columna Ortopédica, Hospital de Ortopedia, Instituto Mexicano del Seguro Social, Distrito Federal, México. adansac@hotmail.com.
authors.forename: Adrián
authors.initials: A
authors.lastname: García-Suárez
authors.forename: Arie Benoit
authors.initials: AB
authors.lastname: Dansac-Rivera
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000601:surgery; D038921:Coffin-Lowry Syndrome / Q000175:diagnosis* / Q000601:surgery; D019299:Decompression, Surgical; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D013115:Spinal Canal / Q000002:abnormalities* / Q000601:surgery; D013116:Spinal Cord / Q000473:pathology*; D013117:Spinal Cord Compression / Q000175:diagnosis* / Q000601:surgery
keywords: Coffin-Lowry syndrome; Intellectual disability; Ligaments; RPS6KA3 protein kinase; Spinal diseases