Fraser-cryptophthalmos syndrome.
Indian J Pediatr
;
2000 Oct; 67(10): 775-8
Article
in English
| IMSEAR
| ID: sea-82118
ABSTRACT
Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. Prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Abnormalities, Multiple
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Eye Abnormalities
/
Syndactyly
/
Craniofacial Abnormalities
/
Infant
Language:
English
Journal:
Indian J Pediatr
Year:
2000
Type:
Article
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