Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly.
A one-year-old boy presented with findings of ocular colobomas and staphylomas in both eyes. He also had a single central incisor and growth failure. His mother had hyposmia. We think that the patient and his mother represent the mild end of the spectrum of autosomal dominant holoprosencephaly.
D000015:Abnormalities, Multiple; D002386:Cataract / Q000151:congenital; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000150:complications*; D005124:Eye Abnormalities; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007180:Incisor / Q000002:abnormalities*; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities; D014057:Tomography, X-Ray Computed