Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0026986 (
myelodysplastic syndrome
)
14,926
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Ellis-van Creveld
(
EVC
) syndrome or
chondroectodermal dysplasia
is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical
EVC
syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with
EVC
syndrome. Here, we report a case of a 3-year-old Hispanic boy with
EVC
syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary
myelodysplastic syndrome
and likely represents an unusual
EVC
syndrome association. To our knowledge, this association has not been previously reported.
...
PMID:Ellis-van Creveld syndrome and dyserythropoiesis. 1585 42
