Fraser-cryptophthalmos syndrome.
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.
Kabra
M
M
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
Gulati
S
S
Ghosh
M
M
Menon
P S
PS
D000015:Abnormalities, Multiple / Q000175:diagnosis; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D005124:Eye Abnormalities / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome