Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature

Prenat Diagn. 1998 Dec;18(12):1294-9.

Abstract

We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth and the prognosis is very poor. Antenatal ultrasound examination may show a combination of orofacial and chest maldevelopment. In our case the diagnosis was made at 20 weeks' gestation during a routine ultrasound examination and the patient chose to terminate the pregnancy at 24 weeks.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / pathology
  • Adult
  • Brain / abnormalities*
  • Female
  • Fetal Growth Retardation / diagnostic imaging
  • Gestational Age
  • Humans
  • Mandible / abnormalities*
  • Mandible / diagnostic imaging
  • Pregnancy
  • Pregnancy Trimester, Second
  • Ribs / abnormalities*
  • Ribs / diagnostic imaging
  • Syndrome
  • Ultrasonography, Prenatal*