APLASIA OF THE ALAE NASI

- BEAK- LIKE NOSE

Aplasia of the alae nasi results in a nose that has a beak-like appearance with large nostrils.

ASSOCIATED SYNDROMES

1. Johanson-Blizzard Syndrome (hypoplasia of the alae nasi, pancreatic insufficiency, aplasia cutis congenita, short stature, mental retardation, dental anomalies, deafness, anorectal anomalies, microcephaly, genitourinary and cardiac anomalies and hypothyroidism) (1,2).
2. Oculodentodigital syndrome (3).
3. Cleft lip sequence.
4. Hallermann-Streiff syndrome.
5. Mietens syndrome.
6. Freeman Sheldon syndrome.

FLATTENED NOSE

Seen best on a mid-sagittal profile view of the face.

ASSOCIATED SYNDROMES

1. Isolated anomaly (1).

2. Trisomy 21 (1).

3. Tetrasomy 12p (1).

4. Binder syndrome (2).

5. Robinow syndrome (2).

6. Apert syndrome (2).

REFERENCES

1. Auslander R, Nevo O, Diukman R et.al. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. Ultrasound Obstet Gynecol 1999;13:450-452.
2. Hurst JA, Baraister m. Johanson-Blizzard syndrome. J Med Genet 1989;26:45-48.
3. Gorlin RJ, Meskin LH, Geme JW. Oculodentodigital dysplasia. J Pediatr 1963;63:69-75.
4. Bronshtein M, Blumenfeld I, Zimmer EZ et.al. Prenatal sonographic diagnosis of nasal malformations. Prenat Diagn 1998;18:447-454.
5. Cook K, Prefumo F, Presti E et.al. The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. Ultrasound Obstet Gynecol 2000;16:578-581