Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: a case report

J Plast Reconstr Aesthet Surg. 2011 Jun;64(6):822-6. doi: 10.1016/j.bjps.2010.08.043. Epub 2010 Oct 6.

Abstract

The current report describes a case of a 16-year-old girl with a rare combination of nasal dysmorphology, anonychia and brachydactyly of hands and feet. The combination of hand and nasal malformations suggested a type B brachydactyly. Genetic investigation, however, revealed Cooks syndrome with unexplained facial dysmorphology. Concerning her cosmetic complaints, options for surgical treatment were discussed. It was decided to treat only the nasal deformity by open rhinoplasty, leaving the nail deformities undisturbed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Facies
  • Female
  • Fingers / abnormalities
  • Fingers / surgery
  • Follow-Up Studies
  • Foot Deformities, Congenital / surgery
  • Hand Deformities, Congenital / surgery
  • Humans
  • Nose Diseases / congenital*
  • Nose Diseases / surgery
  • Orthopedic Procedures / methods*
  • Patient Satisfaction
  • Rhinoplasty / methods*
  • Skin Transplantation / methods*

Supplementary concepts

  • Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges