Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292725" target="_blank" >RIV/00064203:_____/14:10292725 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10292725

Výsledek na webu

<a href="http://dx.doi.org/10.1002/ajmg.a.36404" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.36404</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ajmg.a.36404" target="_blank" >10.1002/ajmg.a.36404</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair

Popis výsledku v původním jazyce

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth,cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed NS/LAH with coarctation of the aorta. The girl was precipitously born at 37 weeks of gestation at home and required a 3-min resuscitation. Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally. The patient presented with facial dysmorphism typical of NS with redundant skin over the nape and on the back. Short stature, relative macrocephaly, failure-to-thrive together with dystrophic appearance, developmental delay mainly in motor milestones and very thin, sparse, slow-growing hair occurred a few weeks after birth. Endocrine eval

Název v anglickém jazyce

Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair

Popis výsledku anglicky

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced growth,cardiac defects, and typical abnormal hair. We report on a patient with molecularly confirmed NS/LAH with coarctation of the aorta. The girl was precipitously born at 37 weeks of gestation at home and required a 3-min resuscitation. Increased nuchal translucency and aortic coarctation with a small ventricular septal defect were described prenatally, hypertrophic cardiomyopathy was detected postnatally. The patient presented with facial dysmorphism typical of NS with redundant skin over the nape and on the back. Short stature, relative macrocephaly, failure-to-thrive together with dystrophic appearance, developmental delay mainly in motor milestones and very thin, sparse, slow-growing hair occurred a few weeks after birth. Endocrine eval

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

American Journal of Medical Genetics, Part A

ISSN

1552-4825

e-ISSN

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Svazek periodika

164

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

1218-1221

Kód UT WoS článku

000334290300021

EID výsledku v databázi Scopus

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