Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: a new syndrome?
We report on a 12-year-old girl who presented with generalized enamel hypoplasia, cataracts, and enlargement of the cerebral ventricles secondary to aqueductal stenosis. Previously described syndromes of enamel defects with or without cataracts were excluded on the basis of clinical criteria and appearance of the dentition. Metabolic conditions which could have caused cataracts were excluded clinically and by biochemical tests. The combination of signs in this patient may represent a new syndrome.
Seow
W K
WK
Department of Pediatric Dentistry, Children's Hospital, Boston, Massachusetts, USA.
Needleman
H L
HL
Smith
L E
LE
Holtzman
D
D
Najjar
S
S
D000015:Abnormalities, Multiple; D002386:Cataract / Q000209:etiology*; D002535:Cerebral Aqueduct / Q000002:abnormalities*; D002552:Cerebral Ventricles / Q000002:abnormalities; D002648:Child; D003251:Constriction, Pathologic / Q000196:embryology; D003744:Dental Enamel Hypoplasia / Q000209:etiology*; D005260:Female; D006801:Humans; D013577:Syndrome; D014095:Tooth, Impacted / Q000209:etiology