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Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) [1] that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. [ 2 ]
In 1912, a fake fossil was discovered by Charles Dawson with a large skull and ape-like jaws. At the time it fit with the scientific community's perception of the missing link's large brain with apelike characteristics, it took 40 years to uncover that Piltdown Man was a forgery.
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Young's syndrome, also known as azoospermia sinopulmonary infections, sinusitis-infertility syndrome and Barry-Perkins-Young syndrome, is a rare condition that encompasses a combination of syndromes such as bronchiectasis, rhinosinusitis and reduced male fertility.
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (), seizures, recurrent respiratory tract infections and congenital cataracts.
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At least 44 individuals diagnosed as of January 2019. [ 3 ] CDK13-related disorder , also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder ( CHDFIDD ), is a very rare autosomal dominant genetic condition characterised by congenital heart defects , intellectual disability and characteristic ...