A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature

Eur J Med Genet. 2021 Sep;64(9):104234. doi: 10.1016/j.ejmg.2021.104234. Epub 2021 Jun 1.

Abstract

In this report, we describe an unusual case of progressive hemifacial atrophy or Parry-Romberg syndrome in a 10-year-old girl with progressive hemifacial microsomia and limb anomalies who had brain magnetic resonance imaging (MRI) findings of white matter hyper-intensities. Patients typically present with neurological manifestations such as epilepsy, facial pain, and migraines and ophthalmological symptoms in conjunction with white matter lesions. The patient demonstrated normal cognition and psychomotor development despite the presence of white matter lesions in her frontal lobe that is commonly associated with neurological symptoms. This report brings attention to the complicated relationship between facial, limb and brain imaging findings in Parry-Romberg syndrome and differentiates it from hemifacial microsomia syndrome.

Keywords: Hemifacial atrophy; Midline indentation; Parry-Romberg syndrome; White matter lesions.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Child
  • Facial Hemiatrophy / genetics
  • Facial Hemiatrophy / pathology*
  • Female
  • Goldenhar Syndrome / genetics
  • Goldenhar Syndrome / pathology*
  • Humans
  • Limb Deformities, Congenital / genetics
  • Limb Deformities, Congenital / pathology*
  • Phenotype