Antley-Bixler syndrome
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Antley-Bixler syndrome (ABS) (or trapezoidocephaly-synostosis syndrome) is a rare, autosomal dominant or recessive condition characterised by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.
Epidemiology
Very rare condition with only 50 cases described in the global literature up to 2006 3.
Clinical presentation
- craniosynostosis
- limb synostoses e.g. radioulnar, radiohumeral, etc.
- mid-face hypoplasia - commonly associated with airway obstruction
- congenital heart disease
- renal maldevelopment e.g. agenesis
- POR mutation only: congenital adrenal hyperplasia and ambiguous genitalia
Pathology
Genetics
Mutations in two separate genes FGFR2 and POR have been found to produce the Antley-Bixler syndrome phenotype.
FGFR2 is inherited in an autosomal dominant manner and POR is in an autosomal recessive manner.
Treatment and prognosis
Neonatal mortality up to 80%, with usual cause of death respiratory compromise. However as the child ages, prognosis improves.
History and etymology
First case was described by R Antley and D Bixler in 1975 3.
- +<li>mid-face hypoplasia - commonly associated with airway obstruction</li>
-<li>renal maldevelopment e.g. <a title="Renal agenesis" href="/articles/renal-agenesis">agenesis</a>- +<li>renal maldevelopment e.g. <a href="/articles/renal-agenesis">agenesis</a>
-</ul><h4>Pathology</h4><h5>Genetics</h5><p>Mutations in two separate genes <em>FGFR2</em> and <em>POR </em>have been found to produce the Antley-Bixler syndrome phenotype</p><p><em>FGFR2</em> is inherited in an autosomal dominant manner and <em>POR</em> is autosomal recessive manner.</p><h4>Treatment and prognosis</h4><p>Neonatal mortality up to 80%, with usual cause of death respiratory compromise. However as the child ages, prognosis improves.</p><h4>History and etymology</h4><p>First case was described by <strong>R Antley </strong>and <strong>D Bixler</strong> in 1975 <sup>3</sup>.</p>- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>Mutations in two separate genes <em>FGFR2</em> and <em>POR </em>have been found to produce the Antley-Bixler syndrome phenotype.</p><p><em>FGFR2</em> is inherited in an autosomal dominant manner and <em>POR</em> is in an autosomal recessive manner.</p><h4>Treatment and prognosis</h4><p>Neonatal mortality up to 80%, with usual cause of death respiratory compromise. However as the child ages, prognosis improves.</p><h4>History and etymology</h4><p>First case was described by <strong>R Antley </strong>and <strong>D Bixler</strong> in 1975 <sup>3</sup>.</p>
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