Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.
A new case of Fraser syndrome with abnormalities of the genital, urinary and skeletal system is reported. The female newborn died shortly after birth. In contrast to cases of Fraser syndrome reported earlier and to widely accepted theories of eye development the present case presented with normal bilateral eyelids although no tissue of ophthalmic origin was found in the orbital cavities on histological examination.
Pankau
R
R
Department of Paediatrics, University of Kiel, Hamburg, Germany.
Partsch
C J
CJ
Jänig
U
U
Meinecke
R
R
D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005143:Eyelids / Q000002:abnormalities / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013576:Syndactyly / Q000235:genetics* / Q000473:pathology; D013577:Syndrome