A CASE OF LENZ MICROPHTHALMIA SYNDROME

Citation
Ff. Ozkinay et al., A CASE OF LENZ MICROPHTHALMIA SYNDROME, Journal of Medical Genetics, 34(7), 1997, pp. 604-606
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
34
Issue
7
Year of publication
1997
Pages
604 - 606
Database
ISI
SICI code
0022-2593(1997)34:7<604:ACOLMS>2.0.ZU;2-M
Abstract
Lent microphthalmia syndrome was first described by Lent et al in 1955 . The cardinal features of the syndrome are microphthalmia or anophtha lmos, narrow shoulders, other skeletal anomalies, and dental and uroge nital malformations. Here we present a case of Lent microphthalmia syn drome who shows the typical characteristics and, additionally, dysgene sis of the corpus callosum associated with dilatation of the lateral v entricles. The patient, a 13 year old male, was referred to our hospit al by a dental hospital for genetic counselling. On physical examinati on, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, mis sing teeth, narrow shoulders, long, proximally placed thumbs, hypospad ias, cryptorchidism, and a normal IQ. Ophthalmological examination sho wed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in ad dition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.