Lenz microphthalmia: a malformation syndrome with variable expression of multiple congenital anomalies.
Lenz microphthalmia is a syndrome of microphthalmia accompanied by multiple congenital anomalies, none of which is unique to the syndrome. The patient described in this paper had, in addition to the microphthalmia, dysmorphic facies and dental anomalies, several features not previously described in this syndrome: synophrys, an isolated cleft of the soft palate, a webbed neck and sacral pits. Other congenital syndromes associated with microphthalmia (oculodentodigital dysplasia, cryptophthalmos and the 10q+ syndrome) were excluded. The frequency of the anomalies described in 22 case reports is presented as a guide to diagnosis in isolated cases.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D002675:Child, Preschool; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome