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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0038379 (
strabismus
)
9,317
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth,
strabismus
, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-
Caffey
and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In conclusion, this patient can have a variant of brachyolmia or Spondylo-epiphyseal dysplasia tarda. However, we cannot exclude that this constellation of clinical features may represent a new syndrome.
...
PMID:New phenotype with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, hyperopia and low cholesterol levels. 2184 4
