Frontal bossing

Frontal bossing

Description

Unusual prominence of the forehead, best appreciated in fetal profile. It may be associated with chromosomal abnormality, achondroplasia or lambdoid synostosis.

Diagnosis

A sagittal view of the fetal face is most useful for detection of frontal bossing or prominence. This is a very subjective feature, but recently 3 dimensional ultrasound has been used to generate normative data for the whole gestation period.

Differential Diagnosis

A small nose may suggest relative prominence of the forehead. Flattening of the malar area of the midface may suggest relative prominence of the forehead.

Sonographic Features

Relative prominence of the forehead in comparison to the midface and nose.

Associated Syndromes

  • Achondroplasia
  • Antley-Bixler
  • Apert
  • Chromosomal Anomalies
  • Conradi-Hunermann
  • Crouzon
  • FG
  • Generalized gangliosidosis
  • Gorlin
  • Greig
  • Hurler
  • I-cell
  • Oto-palato-digital I
  • Pfeiffer
  • Sotos
  • Teratogen Exposure
  • Thanatophoric dysplasia

References

  1. Turner GM, Twining P The facial profile in the diagnosis of fetal abnormalities Clin radiol 47: 389-395
  2. Kim H, Uppal V, Wallach R Apert syndrome and fetal hydrocephaly Hum Genet 73: 93-5
  3. Brook F Sonographic appearance of craniofacial dysostosis in utero Radiography 52: 153-4
  4. Pryde PG, Bawle E, Brandt F, Romero R, Treadwell MC, evans MI Prenatal diagnosis of non-rhizomelic chondrodysplasia punctata (Conradi Hunermann syndrome) Am J Med Genet 47: 426-431
  5. Jones KL Smithís Recognisable Patterns of Human Malformation WB Saunders: Philadelphia