 |
|
Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and HypogenitalismMicro Syndrome
Mette Warburg, MD, PhD;
Ole Sjö, MD;
Hans C. Fledelius, MD, PhD;
Søren A. Pedersen, MD
Am J Dis Child. 1993;147(12):1309-1312.
Abstract
• Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.
(AJDC. 1993;147:1309-1312)
Author Affiliations
From the Division of Pediatric Ophthalmology and Handicaps, Gentofte Hospital, University of Copenhagen (Drs Warburg and Sjö), the Department of Ophthalmology, Hillerød Hospital (Dr Fledelius), and the Department of Pediatrics, Hvidovre Hospital, University of Copenhagen (Dr Pedersen), Denmark.
Footnotes
Accepted for publication July 28, 1993.
Reprint requests to Division of Pediatric Ophthalmology and Handicaps, 40 Sognevej, DK-2820 Gentofte, Denmark (Dr Warburg).
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
Laugel et al.
J. Med. Genet. 2008;45:564-571.
ABSTRACT
| FULL TEXT
Autopsy Case of Multiple Anomalies With Hypoplastic Cerebrum, Eyes, and Endocrine Organs, Mimicking Micro Syndrome
Hamano et al.
J Child Neurol 2003;18:54-57.
ABSTRACT
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?
Mégarbané et al.
J. Med. Genet. 1999;36:637-640.
ABSTRACT
| FULL TEXT
|
