Pierre Robinův syndrom [Pierre Robin Syndrome]

tematický
20
Termíny

sekvence Pierre Robinova

 

Glossoptosis, Micrognathia, and Cleft Palate
Pierre Robin Sequence
Pierre Robin's Sequence
Pierre-Robin Syndrome
Robin Sequence

Perzistentní odkaz   https://www.medvik.cz/link/D010855
Definice

Soubor příznaků autozomálně recesivně dědičné anomálie dutiny ústní a čelisti. Do syndromu patří hypoplazie dolní čelisti, mikrognatie, mediální rozštěp patra, mikroglosie, pseudoglossoschisis, glosoptóza. Bez rozsáhlého stomatochirurgického výkonu hrozí asfyxie po zapadnutí jazyka nebo aspirace potravy. (cit. Velký lékařský slovník online, 2017 http://lekarske.slovniky.cz)

Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.

Anotace
named for French dentist Pierre Robin: Robin is his surname; note: no hyphen
název po francouzském stomatologovi Pierru Robinovi; bez pomlčky
DUI
D010855 MeSH Prohlížeč
CUI
M0016846
Historická pozn.
65(64)
Veřejná pozn.
65

C Nemoci
C05.500 nemoci čelistí 134
C05.500.460 abnormality čelisti 171
C05.500.460.185 rozštěp patra 734
C05.500.460.457 mikrognacie 5
C05.500.460.606 Pierre Robinův syndrom 20
C05.500.460.655 prognacie 18
C05.500.460.827 retrognacie 8
C05.660.207.540.460 abnormality čelisti 171
C05.660.207.540.460.185 rozštěp patra 734
C05.660.207.540.460.457 mikrognacie 5
C05.660.207.540.460.606 Pierre Robinův syndrom 20
C05.660.207.540.460.655 prognacie 18
C05.660.207.540.460.827 retrognacie 8
C07.320 nemoci čelistí 134
C07.320.440 abnormality čelisti 171
C07.320.440.185 rozštěp patra 734
C07.320.440.457 mikrognacie 5
C07.320.440.606 Pierre Robinův syndrom 20
C07.320.440.655 prognacie 18
C07.320.440.827 retrognacie 8
C07.650.500.460 abnormality čelisti 171
C07.650.500.460.185 rozštěp patra 734
C07.650.500.460.457 mikrognacie 5
C07.650.500.460.606 Pierre Robinův syndrom 20
C07.650.500.460.655 prognacie 18
C07.650.500.460.827 retrognacie 8
C16.131 vrozené vady 1 741
C16.131.621.207.540 maxilofaciální abnormality 28
C16.131.621.207.540.460 abnormality čelisti 171
C16.131.621.207.540.460.185 rozštěp patra 734
C16.131.621.207.540.460.457 mikrognacie 5
C16.131.621.207.540.460.606 Pierre Robinův syndrom 20
C16.131.621.207.540.460.655 prognacie 18
C16.131.621.207.540.460.827 retrognacie 8
C16.131.850.500.460 abnormality čelisti 171
C16.131.850.500.460.185 rozštěp patra 734
C16.131.850.500.460.457 mikrognacie 5
C16.131.850.500.460.606 Pierre Robinův syndrom 20
C16.131.850.500.460.655 prognacie 18
C16.131.850.500.460.827 retrognacie 8

Catel Manzke syndrome Disease MeSH Prohlížeč

Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Disease MeSH Prohlížeč

Femoral facial syndrome Disease MeSH Prohlížeč

Myopathy, congenital nonprogressive with Moebius and Robin sequences Disease MeSH Prohlížeč

Pierre Robin Sequence with Facial and Digital Anomalies Disease MeSH Prohlížeč

Pierre Robin sequence with pectus excavatum and rib and scapular anomalies Disease MeSH Prohlížeč

Pierre Robin syndrome with fetal chondrodysplasia Disease MeSH Prohlížeč

Radial defect Robin sequence Disease MeSH Prohlížeč

Richieri Costa Pereira syndrome Disease MeSH Prohlížeč

Robin Sequence with Distinctive Facial Appearance and Brachydactyly Disease MeSH Prohlížeč

Robin sequence and oligodactyly Disease MeSH Prohlížeč

Sanderson Fraser syndrome Disease MeSH Prohlížeč

Stevenson-Carey Syndrome Disease MeSH Prohlížeč

Stoll Alembik Dott syndrome Disease MeSH Prohlížeč

TARP syndrome Disease MeSH Prohlížeč

Thrombocytopenia Robin sequence Disease MeSH Prohlížeč

Ventricular extrasystoles perodactyly Robin sequence Disease MeSH Prohlížeč