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1 type I acrocephalosyndactyly
Медицина: синдром Апера (наследственное заболевание с искажением строения черепа (краниосиностоз), искажением строения лица и сращиванием пальцев рук и ног), акрокраниодисфалангия, акросфеносиндактилия, акроцефалосиндактилия, синдром АпертаУниверсальный англо-русский словарь > type I acrocephalosyndactyly
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2 acrocephalosyndactyly type 3
1) Общая лексика: синдром (наследственные пороки развития черепа и пальцев в виде сочетания акроцефалии, асимметрии челюстей, косоглазия, гипертелоризма, синдактилии II и III пальцев рук, III и IY пальцев ног)2) Медицина: акроцефалосиндактилия III типа, синдром ХотценаУниверсальный англо-русский словарь > acrocephalosyndactyly type 3
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3 acrocephalosyndactyly type I
Медицина: синдром Апера (наследственное заболевание с искажением строения черепа (краниосиностоз), искажением строения лица и сращиванием пальцев рук и ног), акрокраниодисфалангия, акросфеносиндактилия, акроцефалосиндактилия, синдром АпертаУниверсальный англо-русский словарь > acrocephalosyndactyly type I
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4 Pfeiffer type acrocephalosyndactyly
Англо-русский медицинский словарь > Pfeiffer type acrocephalosyndactyly
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5 ACS1
Медицина: acrocephalosyndactyly type I
См. также в других словарях:
Acrocephalosyndactyly — An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which … Medical dictionary
Apert syndrome acrocephalosyndactyly — An inherited disorder causing abnormalities of the skull, face and hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from… … Medical dictionary
Syndrome, Apert (acrocephalosyndactyly) — An inherited disorder with abnormalities of the skull and face and the hands and feet. There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front … Medical dictionary
acrocephalosyndactyly type I — Apert syndrome … Medical dictionary
acrocephalosyndactyly type III — Chotzen syndrome … Medical dictionary
acrocephalosyndactyly type V — Pfeiffer syndrome … Medical dictionary
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Pfeiffer syndrome — A form of craniosynostosis that results in multiple physical defects, including broad thumbs and great toes; depressed nasal bridge and generally flat profile; low set, slanted ears;, strabismus; and a prominent mandible. There may also be… … Medical dictionary
Fibroblast growth factor receptor 2 — PDB rendering based on 1djs … Wikipedia
Apert syndrome — The best known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases,… … Medical dictionary
FGFR2 — A mutation (change) in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best known type of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities of the skull and face and the hands… … Medical dictionary