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Thoracic dysplasia

National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2001
Review
2001
[Asphyxiating thoracic dysplasia].
Review
1999
Review
1999
Prenatal Diagnosis of Thoracopelvic Dysplasia: A Case Report
BACKGROUND Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (Jeune syndrome), is an uncommon skeletal… 
1998
1998
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity
Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short‐limb dwarfism in the fetus. The… 
1993
1993
[Variability of Jeune syndrome. Lung hypoplasia, renal failure and direct hyperbilirubinemia in a newborn infant].
Asphyxiating thoracic dysplasia (Jeune-syndrome) is an autosomal inherited disease which is characterized by bone dysplasia… 
Review
1990
Review
1990
[Asphyxiating thoracic dysplasia associated with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy-Walker syndrome].
The authors report on a case of a newborn with asphyxiating thoracic dysplasia who died 36 h after birth. This chondrodysplasia… 
1989
1989
Antenatal diagnosis of asphyxiating thoracic dysplasia.
1979
1979
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes
The phalangeal cone shaped epiphysis of the hands (PhCSEH1) observed in the extended Saldino-Mainzer syndrome (SMS), including… 
1977
1977
[Bone maturation in asphyxiating thoracic dysplasia and diastrophic dwarfism in the neonatal period (author's transl)].
The authors draw attention on the importance of the multicentric technique in the evaluation of bone maturation of asphyxiating… 
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