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Acrocephalosyndactylia - Surgery
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Definition of 'Acrocephalosyndactylia'

Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)

Common names: Acrocephalosyndactylia; Acrocephalosyndactylias; Pfeiffer Syndrome; Syndrome, Pfeiffer; Saethre-Chotzen Syndrome; Saethre Chotzen Syndrome; Syndrome, Saethre-Chotzen; Apert Syndrome; Syndrome, Apert

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Saturday, November 21, 2009

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

30 May 2009 BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ... Read more...


Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.

29 Apr 2009 BACKGROUND: Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad ... Read more...


BaS analysis: suggesting a new cephalometric model in follow-up of patients with craniostenosis who underwent craniofacial advancement surgery after 1 year from the end of the distraction protocol.

29 Apr 2009 Evaluation of the relapse in patients with craniofacial malformation who underwent craniofacial advancement surgery is very difficult, and data are often unreliable. This is because common skeletal landmarks move from their original position, making ... Read more...

 

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Technical information about 'Acrocephalosyndactylia'

Definition: Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)

Descriptor UI: D000168

Alternative terms: Acrocephalosyndactylia; Acrocephalosyndactylias; Pfeiffer Syndrome; Syndrome, Pfeiffer; Saethre-Chotzen Syndrome; Saethre Chotzen Syndrome; Syndrome, Saethre-Chotzen; Apert Syndrome; Syndrome, Apert;

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: C05.116.099.370.894.232.015; C05.116.099.370.894.819.100; C05.660.207.240.100; C05.660.585.800.100; C05.660.906.364.100; C05.660.906.819.100; C16.131.621.207.240.100; C16.131.621.585.800.100; C16.131.621.906.364.100; C16.131.621.906.819.100;

Technical Notes: congen deform of skull, fingers & toes; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

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