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Table 3 Diagnostic Criteria of Fraser Syndrome2

From: Reconstruction strategy in isolated complete Cryptophthalmos: a case series

Criterion

Characteristics

Major

Cryptophthalmos (complete, incomplete, or abortive form)

Syndactyly

Genital abnormalities (male patients: cryptorchidism, hypospadias) (female patients: uterine abnormalities, malformed fallopian tubes, clitoromegaly)

Affected sibling

Minor

Nasal malformations

Ear malformations

Laryngeal malformations

Umbilical hernia

Renal abnormalities (dysplasia, hypoplasia, or agenesis)

Bony abnormalities (other than syndactyly)

Cleavage of tongue or other oral clefts

Mental retardation