Fraser's syndrome.
A full term female baby at birth showed the features of Fraser's syndrome viz. upper lid coloboma, cryptophthalmos, abnormal groove over temporal region, dysmorphic facies, hypospadias and bilateral syndactyly. On ultrasound examination of the abdomen and left orbit, maldeveloped kidney and eyeball were found. Other siblings were not affected. The child died at the age of 3 months.
Agashe
A P
AP
Dept. of Opthalmology, KEM Hospital, Parel, Bombay, Maharashtra.
Adrianwala
S D
SD
Bhatti
S S
SS
Contractor
C P
CP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D003103:Coloboma / Q000000981:diagnostic imaging; D005143:Eyelids / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D013576:Syndactyly / Q000000981:diagnostic imaging; D013577:Syndrome; D014463:Ultrasonography