Pfeiffer-Palm-Teller syndrome

Definicija

Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.

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Pun naziv

Pfeiffer-Palm-Teller syndrome

Kratki naziv

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Sinonimi

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Orpha broj

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

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Nasleđivanje

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Period početka bolesti

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ICD 10

OMIM

UMLS

GARD

MEDDRA

Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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