scholarly journals Distrofia asfixiante de jeune em paciente pediátrico: Relato de caso / Asphyxiating thoracic dystrophy in pediatric patient: A case report

2021 ◽  
Vol 4 (5) ◽  
pp. 19711-19718
Author(s):  
Clara de Freitas Roque ◽  
Ana Paula de Oliveira Silveira ◽  
Bruna Melissa Duarte Miranda ◽  
Fernanda Lacerda Santos Silva ◽  
Luíza Maria de Almeida Sousa
Keyword(s):  
Case Report ◽  
Pediatric Patient ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals Asphyxiating thoracic dystrophy. A case report.

1990 ◽  
Vol 38 (3) ◽  
pp. 1171-1174
Author(s):  
Kouichirou Tashiro ◽  
Yukiyoshi Kawaguchi ◽  
Kazumasa Yamaguchi ◽  
Yoshikazu Ninomiya ◽  
Keiji Mihara ◽  
...  
Keyword(s):  
Case Report ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals Case Report: Anesthesia in Patients with Asphyxiating Thoracic Dystrophy: Jeune Syndrome

2012 ◽  
Vol 62 (3) ◽  
pp. 424-431 ◽  
Author(s):  
Deise Saletti ◽  
Thiago Ramos Grigio ◽  
Deoclecio Tonelli ◽  
Onésimo Duarte Ribeiro Júnior ◽  
Fabríccio Marini
Keyword(s):  
Case Report ◽  
Jeune Syndrome ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals Prenatal case of detection of the asphyxiating thoracic dystrophy (Jeune syndrome)

2020 ◽  
pp. 61-62
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
В.Н. Грященко ◽  
О.П. Николаева ◽  
Е.А. Калинина
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Thoracic Cage ◽  
Jeune Syndrome ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy ◽  
Tubular Bones

Асфиктическая дисплазия грудной клетки представляет собой редкое аутосомно-рецессивное наследственное заболевание, которое характеризуется узкой грудной клеткой, короткими рёбрами, укороченными трубчатыми костями, возможно сочетание этих симптомов с полидактилией, аномалиями мозга, сердца, почек, печени, поджелудочной железы. В статье представлен случай пренатального выявления синдрома асфиктической дисплазии грудной клетки (синдром Жене) Short-rib thoracic dysplasia (SRTD) is an autosomal recessive disorder characterized by a constricted thoracic cage, short-ribs, shortened tubular bones, polydactyly is variably present. The visceral malformation can include anomalies brain, heart, kidneys, liver, pancreas. We present a case report of prenatally diagnosed Short-rib thoracic dysplasia (SRTD) syndrome.

scholarly journals Overlapping Holoprosencephaly-polydactyl syndrome and Asphyxiating thoracic dystrophy, an incidental finding in prenatal ultrasound screening: A rare case report

2020 ◽  
Author(s):  
Senai Sereke ◽  
Anthony Oriekot ◽  
Felix Bongomin
Keyword(s):  
Case Report ◽  
Lower Extremity ◽  
Rare Case ◽  
Incidental Finding ◽  
Ultrasound Screening ◽  
Obstetric Ultrasound ◽  
Female Fetus ◽  
Asphyxiating Thoracic Dystrophy ◽  
Rare Case Report ◽  
Thoracic Dystrophy

An obstetric ultrasound of a multi-gravid mother at 37-week of gestation showed a female fetus with alobar holoprosencephaly, polydactyly, short ribs, narrow chest and short upper and lower extremity bones, consistent with Holoprosencephaly-polydactyly syndrome and Asphyxiating thoracic dystrophy overlap. Apgar score was 0 in the first and fifth minutes.

Asphyxiating thoracic dystrophy: a report of 3 cases

1998 ◽  
Vol 74 (4) ◽  
pp. 333-7 ◽  
Author(s):  
Cláudia S. Orfaliais ◽  
Maria de Fátima P. March ◽  
Sidnei Ferreira ◽  
Rosana Alves ◽  
Clemax C. Sant’Anna
Keyword(s):  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy
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