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Jeune Sendromu

Jeune Syndrome (Asphyxiating Thoracic Dystrophy)

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2011

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Jeune syndrome, otherwise called as “asphyxiating thoracic dystrophy” (ATD) is a rare autosomal recessive inherited chondrodysplasia characterized by severely constricted thoracic cage, limb anomalies, respiratory insufficiency and considerable neonatal mortality. Most of the children suffering from this syndrome present severe respiratory insufficiency and need serious ventilatory support during the early infancy period. The syndrome has a wide clinical spectrum including renal dysplasia, retinitis pigmentosa, hepatic and pancreatic fibrosis. Herein we present a neonate who had a prenatal diagnosis of achondroplasia, showed serious respiratory insufficiency postnatally and was diagnosed as Jeune syndrome.
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Abstract (Original Language): 
Jeune sendromu; diğer adıyla ‘Asfiksik Torasik Displazi’ (ATD) daralmış göğüs kafesi, ekstremite anomalileri, solunum yetmezliği ve kayda değer yenidoğan mortalitesi ile karakterize otozomal resesif kalıtım gösteren nadir bir kondrodisplazidir. Bu sendrom bulunan çocukların çoğu şiddetli solunumsal yetmezlik gösterir ve erken süt çocukluğu döneminde ciddi ventilatör desteğine ihtiyaç duyabilir. Sendromun renal displazi, retinitis pigmentosa, hepatik ve pankreatik fibrozu içerebilen geniş bir klinik spektrumu mevcuttur. Doğum öncesi akondroplazi tanısı bulunan ve doğum sonrası ciddi solunumsal yetmezlik gösteren ve Jeune sendromu tanısı konulan bir hastayı sunduk.
FULL TEXT (PDF): 
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  • 2
115-118
  • Turkish

REFERENCES

References: 

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