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Schinzel-Giedion syndrome

Known as: Schinzel-Giedion Midface-Retraction Syndrome, Schinzel Giedion midface-retraction syndrome, Schinzel-Giedion Midface Retraction Syndrome 
An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial… 
National Institutes of Health

Related topics

Related topics

32 relations
Atrial Septal DefectsAutosomal dominant inheritanceBicornuate uterusCerebral atrophy

Broader (5)

Congenital Hand DeformitiesCraniofacial AbnormalitiesIntellectual DisabilityMultiple congenital anomalies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Retrospective Review of the Complication Profile Associated with 71 Subcranial and Transcranial Midface Distraction Procedures at a Single Institution
Background: This study characterizes the perioperative morbidity of a large cohort of subjects with syndromic craniosynostosis… 
2009
2009
The purse-string reinforced SMASectomy short scar facelift.
2002
2002
Maxillary expansion and protraction in correction of midface retrusion in a complete unilateral cleft lip and palate patient.
A 7-year-old girl with a cleft lip and palate had a midface retrusion due to growth inhibition of the maxillary complex. She… 
2002
2002
Immediate versus delayed midface distraction in a primate model using a new intraoral internal device.
The theoretic advantage of distraction osteogenesis of the craniofacial skeleton, especially in cases of severe midface retrusion… 
1996
1996
Agenesis of the corpus callosum in Schinzel‐Giedion syndrome associated with 47, XXY karyotype
The Schinzel‐Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and… 
1995
1995
Surgically assisted rapid orthodontic lengthening of the maxilla in primates--a pilot study.
1994
1994
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations.
Schinzel-Giedion syndrome (SGS) is a rare and incompletely defined condition. This is the third postmortem study on a boy with… 
1994
1994
The phagocytes in hemolymph of Halocynthia roretzi and their phagocytic activity
The phagocytes in hemolymph of Halocynthia roretzi and their phagocytic activity in vitro were studied by electron microscopy… 
1991
1991
Craniofacial dysostosis. Staging of reconstruction and management of the midface deformity.
Review
1990
Review
1990
The Schinzel-Giedion Syndrome
The authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literature, and it… 
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