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PedAM

Pediatric Disease Annotations & Medicines




Disease craniosynostosis
Symptom C1839611|n syndrome
Sentences 7
PubMedID- 23738319 In addition to the fgfr signaling mutations, twist1 is implicated in craniosynostosis in humans with saethre-chotzen syndrome .
PubMedID- 22090712 2antley-bixler syndrome (abs): abs is a multiple skeletal malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities, and, often, early death.
PubMedID- 23303641 Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
PubMedID- 25123707 Severe craniosynostosis with noonan syndrome phenotype associated with shoc2 mutation: clinical evidence of crosslink between fgfr and ras signaling pathways.
PubMedID- 24328900 Crouzon syndrome presents with craniosynostosis, maxillary hypoplasia, exophtalmus, and sometimes hampered neuropsychological development.
PubMedID- 25071892 Bilateral squamosal suture synostosis: a rare form of isolated craniosynostosis in crouzon syndrome.
PubMedID- 24753669 2 the common syndromes associated with craniosynostosis are crouzon syndrome, apert syndrome, carpenter syndrome, treacher collins syndrome, and craniotelencephalic dysplasia.

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