Article
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
Journal of medical genetics - 1 Sept 2002
Slavotinek A M, Tifft C J
Abstract excerpt
Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic abnormalities have been documented in affected patients, and no molecular genetic studies have been reported. We have...
Topics
- Abnormalities, Multiple
- Diagnosis, Differential
- Eye Abnormalities
- Eyelids
- Female
- Humans
- Male
- Phenotype
- Pregnancy
- Pregnancy Complications
- Sex Factors
- Syndactyly
- Syndrome