Skip to search formSkip to main contentSkip to account menu

Thoracic hypoplasia

Known as: Small chest, Small thorax 
National Institutes of Health

Related topics

Related topics

7 relations
DiaphanospondylodysostosisDyssegmental dysplasiaKyphomelic dysplasiaSPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Mediastinal and hilar soft tissue mass‐like lesions in congenital unilateral pulmonary vein atresia: A retrospective review of seven pediatric patients
Congenital unilateral pulmonary vein atresia (CUPVA) is known to lead to the formation of an abnormal confluent mediastinal and… 
2016
2016
Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins
Abstract Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine… 
2015
2015
A Term Male Neonate with Achondroplasia and Persistent Pulmonary Hypertension: A Case Report
Achondroplasia is the most common non lethal variant of chondrodysplasia with birth prevalence of 1 in 15,000 to 40,000 births… 
2015
2015
Constitutional psychology of men with mental and behavioral disorders
The aim of the current study is to examine features and correlations of psychodynamic, somatic and dermatoglyphic constitutions… 
2012
2012
Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype
We report on a 14‐year‐old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features… 
2012
2012
A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging
Boomerang dysplasia is a rare lethal osteochondrodysplasia characterized by disorganized mineralization of the skeleton, leading… 
2005
2005
Sirenomelia (symelia dipus)
Received: 1 February 2005 Revised: 25 March 2005 Accepted: 30 March 2005 Published online: 13 May 2005 Springer-Verlag 2005 A 26… 
Review
2005
Review
2005
Short Rib Polydactyly Syndrome Type 3 with Absence of Fibulae (Verma-Naumoff Syndrome)
Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with… 
1999
1999
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.
We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and… 
1999
1999
Achondroplasia-hypochondroplasia complex in a newborn infant.
We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)