|1.||Turnpenny, Peter D: 4 articles (09/2013 - 06/2008)|
|2.||Ramirez, Norman: 4 articles (03/2011 - 12/2003)|
|3.||Campbell, Robert M: 3 articles (11/2014 - 12/2008)|
|4.||Dunwoodie, Sally L: 3 articles (09/2013 - 02/2009)|
|5.||Zanotti, Stefano: 3 articles (06/2013 - 02/2010)|
|6.||Canalis, Ernesto: 3 articles (06/2013 - 02/2010)|
|7.||Cornier, Alberto S: 3 articles (03/2011 - 12/2003)|
|8.||Geze, Sukran: 2 articles (09/2015 - 09/2015)|
|9.||Arslan, Ufuk: 2 articles (09/2015 - 09/2015)|
|10.||Tusat, Mustafa: 2 articles (09/2015 - 09/2015)|
|1.||Congenital Abnormalities (Deformity)
08/01/2014 - "Spondylocostal dysostosis (SCD) is a very rare syndrome characterized by vertebral malformation and rib deformity. "
06/01/2007 - "Disruption of somitogenesis can lead to severe vertebral birth defects such as spondylocostal dysostosis (SCD). "
01/01/2007 - "Jarcho-Levin syndrome (JLS) causes severe vertebral and thoracic deformity and has an autosomal-recessive mode of inheritance. "
04/01/2003 - "The similarity in the phenotypes we describe here and that of some human birth defects, such as spondylocostal dysostosis, raises the possibility that mutations in Tbx6 or components of this pathway may be responsible for these defects."
05/01/1998 - "Jarcho-Levin syndrome is defined by the presence of costoveriebral defects without any other congenital defect. "
|2.||Neural Tube Defects (Exencephaly)
01/01/2015 - "Neural tube defects in Jarcho-Levin syndrome: study of twenty-eight cases."
07/01/2011 - "We report the fifth case of Jarcho-Levin syndrome with diastematomyelia and review the literature. "
07/01/2011 - "Only four cases of Jarcho-Levin syndrome with diastematomyelia have been reported in the literature. "
07/01/2011 - "Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature."
01/01/2007 - "Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis."
01/01/2015 - "Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). "
06/01/2013 - "Inherited or sporadic mutations in components of the Notch signaling pathway are associated with spondylocostal dysostosis, spondylothoracic dysostosis and recessive brachydactyly, diseases characterized by skeletal patterning defects. "
03/01/2013 - "Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis."
01/01/2013 - "The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. "
06/01/2008 - "Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax. "
|4.||Respiratory Insufficiency (Respiratory Failure)
01/01/2014 - "A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. "
09/01/2011 - "Jarcho Levin syndrome is an eponymous syndrome consisting with a set of multiple vertebral and rib anomalies, characterized by a short neck, short trunk and short height, which trigger respiratory failure and early neonatal death. "
08/01/2009 - "Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. "
05/01/2001 - "Jarcho-Levin syndrome (JLS) or spondylothoracic dysotosis causes early newborn death from respiratory insufficiency. "
09/01/1993 - "A child with respiratory insufficiency due to a lethal syndrome known as spondylocostal dysostosis is described. "
03/01/2010 - "Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. "
03/01/2004 - "Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. "
12/01/2003 - "Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. "
09/01/1995 - "Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a rare form of short-limbed dwarfism characterized by extensive vertebral and chest-wall abnormalities. "
01/01/1989 - "Spondylothoracic dysplasia, also known as short-trunk dwarfism or Jarcho-Levin syndrome, is a fatal autosomal recessive disorder characterized by vertebral and spinal defects with a short thorax. "
|3.||Congenital diaphragmatic hernia
|5.||Lateral meningocele syndrome
|6.||Renal hepatic pancreatic dysplasia Dandy Walker cyst
|7.||Multiple pterygium syndrome
|10.||Hereditary renal agenesis