Fraser syndrome: a new case report with review of the literature.
Fraser syndrome is an autosomal recessive disorder characterized by cryptophthalmos and cutaneous syndactyly. We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of Fraser syndrome including syndactyly (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis. We also present the major and minor diagnostic criteria for Fraser syndrome and the frequency of associated malformations.
Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Bishoy S
BS
Eskander
Bahig M
BM
Shehata
D000015:Abnormalities, Multiple; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013576:Syndactyly / Q000175:diagnosis*