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Craniofacial Dysostosis
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Definition of 'Craniofacial Dysostosis'

An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. (Dorland, 27th ed)

Common names: Craniofacial Dysostosis; Crouzon's Disease; Crouzons Disease; Disease, Crouzon's; Crouzon Disease; Disease, Crouzon; Dysostosis, Craniofacial; Craniofacial Dysostoses; Dysostoses, Craniofacial

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Saturday, November 21, 2009

Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model.

30 Jul 2009 INTRODUCTION - The mechanisms underlying craniosynostosis remains unknown. However, mutations in FGFR2 are associated with craniosynostotic syndromes. We previously compared gene expression patterns of patent and synostosing coronal sutures in the ... Read more...


Marathon of eponyms: 3 Crouzon syndrome.

29 Jun 2009 The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically ... Read more...


Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.

29 Jun 2009 We report on a 6-month-old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital ... Read more...

 

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Technical information about 'Craniofacial Dysostosis'

Definition: An autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism. (Dorland, 27th ed)

Descriptor UI: D003394

Alternative terms: Craniofacial Dysostosis; Crouzon's Disease; Crouzons Disease; Disease, Crouzon's; Crouzon Disease; Disease, Crouzon; Dysostosis, Craniofacial; Craniofacial Dysostoses; Dysostoses, Craniofacial;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; ultrastructure; urine; veterinary; ultrasonography; virology;

Tree Number: C05.116.099.370.231; C05.660.207.231; C16.131.621.207.231;

Technical Notes: do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; "craniofacial dysmorphism" does not go here: index under FACIAL BONES /abnorm + SKULL /abnorm but not also under ABNORMALITIES, MULTIPLE

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