Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome?

Am J Med Genet. 2001 Jan 22;98(3):263-8. doi: 10.1002/1096-8628(20010122)98:3<263::aid-ajmg1092>;2-1.


We report on an 8-year-old Thai girl with bilateral complete cryptophthalmos, facial asymmetry, delayed bone age, brachymesophalangy and medial deviation of the second toes, and dental anomalies. The dental anomalies consist of delayed dental development, congenital absence of the second premolars, microdontia of the deciduous molars. A fibrous band of the buccal mucosa was found. Dental anomalies are rare among patients with Fraser syndrome. They have not been reported in either isolated or other syndromic cryptophthalmos. The oral manifestations and brachymesophalangy of the second toes found in our patient may represent newly recognized findings associated with cryptophthalmos or they may represent a newly recognized syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Diagnosis, Differential
  • Eyelids / abnormalities*
  • Female
  • Humans
  • Syndactyly
  • Syndrome
  • Toes / abnormalities*
  • Tooth Abnormalities*