Nasal hypoplasia

Nasal hypoplasia

Description

Nasal measurements that are 2 standard deviations or more below the mean. Assessment of nasal height, width and protrusion is usually made. Nasal height is the vertical distance between the base of the columella and the nasion. Nasal width is the horizontal measurement between the outer margins of the alae nasi. Nasal protrusion is the measurement from the nasal tip to the base of the columella – best appreciated in profile. In clinical practice, identification is most often made subjectively, and reduction in protrusion or underdevelopment of the nasal bridge are the commonest presentations.

Diagnosis

Protrusion of the nasal tip and integrity of the bridge are best appreciated in the midsagittal plane. The nose may also be viewed in coronal and transverse planes.

Differential Diagnosis

Prominence of the eyes may suggest relative lack of protrusion of the nose. Increased length of the philtrum may lead the observer to believe nasal height is reduced.

Sonographic Features

Nose appears flattened (reduced protrusion)

Nasal bridge may appear low-placed/scooped in profile

All nasal dimensions may be reduced

Associated Syndromes

  • Acrodysostosis
  • Apert
  • Binder
  • Chondrodysplasia
  • Hallerman-Streiff
  • Holoprosencephaly
  • Pfeiffer
  • Phenytoin embryopathy
  • Stickler
  • Thanatophoric dysplasia
  • Warfarin

References

Cohen MM Jr In: Human Malformations and Related Anomalies Oxford University Press: New York, p324-5
Hegge FN, Prescott GH, Watson PT Fetal facial abnormalities identified during obstetric sonography J Ultrasound Med 5: 679-684
Nicolaides KH, Salveson DR, Snijders RJM, Gosden CM Fetal facial defects: associated malformations and chromosomal abnormalities. Fetal Diagn Ther 8: 1-9
Parent P, LeGuern H, Munck MR, Thoma M Apert syndrome, an antenatal ultrasound detected case Genet Counselling 5: 297-301
Escobar LF, Bixler D, Padilla LM, Weaver DD, Williams CJ A morphometric analysis of fetal craniofacies by ultrasound: fetal cephalometry J Craniofac Gen dev Biol 10: 19-72
Howe AM, Lipson AH, Sheffield LJ, Haan EA, Halliday JL, Jenson F, David DA, Webster WS Prenatal exposure to phenytoin, facial development, and a possible role for Vitamin K Am J Med Genet 58: 238-244