Evolution of a patient with Bohring-Opitz syndrome

Am J Med Genet A. 2009 Aug;149A(8):1754-7. doi: 10.1002/ajmg.a.32910.


We detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring-Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. The facial anomalies described in our patient were microcephaly, bitemporal narrowing, "puffy" cheeks, forehead naevus flammeus, hypoplastic orbital ridges, prominent eyes, broad nasal bridge, high arched palate, buccal-alveola frenula and retrognathism. The magnetic resonance imaging (MRI) of the brain showed a hypoplastic corpus callosum and a narrowed upper cervical canal; and the cervical MRI showed a malformation of the atlas consisting in an agenesis of the anterior arch and an anterior slip of the posterior arch. We focused on her neurological and nutritional evolution. Despite the gastrostomy and a Nissen fundoplication at age 7 months, she still had developmental growth delays overall (<3rd centile). At 3 years 9 months of age, she began to put on weight quickly, which seemed to be atypical. Meanwhile she developed epilepsy, which was controlled with specific drugs. Currently, she is 5 years 9 months old and has significant psychomotor retardation, although this disease is often fatal in early childhood, due to obstructive apnea and unexplained bradycardia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Cervical Vertebrae / pathology
  • Child
  • Child, Preschool
  • Female
  • Growth and Development
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Syndrome