Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?
The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, midface hypoplasia, and umbilical anomalies, the designation "Rieger syndrome" is appropriate. Both conditions are autosomal dominant traits. The Axenfeld-Rieger anomaly is also known to occur in a variety of other syndromes. We report on two sisters, born to consanguineous parents, who presented with Axenfeld-Rieger anomaly, hydrocephalus, leptomeningeal calcifications, and mild mental retardation. Their height was on and just below the 3rd centile, respectively. One of them suffered from epilepsy and the other from sensorineural hearing loss. Two of their brothers died at young ages of hydrocephalus and possibly had intracranial calcifications as well. The differential diagnosis is discussed. Of the known syndromes associated with Axenfeld-Rieger anomaly, none could be convincingly applied to the propositae. Possibly, they represent a previously unreported autosomal recessive syndrome.
Moog
U
U
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands. ute.moog@gen.unimaas.nl
Bleeker-Wagemakers
E M
EM
Crobach
P
P
Vles
J S
JS
Schrander-Stumpel
C T
CT
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000867:Anterior Chamber / Q000002:abnormalities*; D001927:Brain Diseases / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D002386:Cataract; D003241:Consanguinity; D003638:Deafness; D003731:Dental Caries; D003937:Diagnosis, Differential; D004827:Epilepsy; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008607:Intellectual Disability; D008297:Male; D009679:Nuclear Family; D013577:Syndrome