Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another family.
We report on the occurrence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66]. The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance.
Pallotta
R
R
Center for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G. D'Annunzio University, Chieti, Italy. pallotta@unich.it
Fusilli
P
P
Sabatino
G
G
Verrotti
A
A
Chiarelli
F
F
D000328:Adult; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree