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.
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 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.

-<p><strong>Antley-Bixler syndrome</strong> (<strong>ABS</strong>) (or <strong>trapezoidocephaly-synostosis syndrome</strong>) is a rare, autosomal dominant or recessive condition characterised by craniosynostosis and extra-cranial synostoses. <a title="Mid face hypoplasia" href="/articles/midfacial-hypoplasia-1">Mid-facial hypoplasia</a> is also common.</p><h4>Clinical presentation</h4><ul>
+<p><strong>Antley-Bixler syndrome</strong> (<strong>ABS</strong>) (or <strong>trapezoidocephaly-synostosis syndrome</strong>) is a rare, autosomal dominant or recessive condition characterised by craniosynostosis and extra-cranial synostoses. <a href="/articles/midfacial-hypoplasia-1">Mid-facial hypoplasia</a> is also common.</p><h4>Epidemiology</h4><p>Very rare condition with only 50 cases described in the global literature up to 2006 <sup>3</sup>. </p><h4>Clinical presentation</h4><ul>
~~-<a title="Craniosynostosis" href="/articles/craniosynostosis">craniosynostosis</a> </li>~~
~~-<li>limb synostoses e.g.</li>~~
~~-<li><a title="Congenital heart disease" href="/articles/congenital-cardiovascular-anomalies">congenital heart disease</a></li>~~
~~-<li>renal maldevelopment</li>~~
+<a href="/articles/craniosynostosis">craniosynostosis</a> </li>
+<li>limb synostoses e.g. radioulnar, radiohumeral, etc.</li>
+<li><a href="/articles/congenital-cardiovascular-anomalies">congenital heart disease</a></li>
+<li>renal maldevelopment e.g. <a title="Renal agenesis" href="/articles/renal-agenesis">agenesis</a>
+</li>
~~-<em>POR</em> mutation only: <a title="Congenital adrenal hyperplasia" href="/articles/congenital-adrenal-hyperplasia">congenital adrenal hyperplasia</a> and ambiguous genitalia </li>~~
-</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>
+<em>POR</em> mutation only: <a href="/articles/congenital-adrenal-hyperplasia">congenital adrenal hyperplasia</a> and ambiguous genitalia </li>
+</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>

References changed:

1. Ko JM. Genetic Syndromes Associated with Craniosynostosis. (2016) Journal of Korean Neurosurgical Society. 59 (3): 187-91. <a href="https://doi.org/10.3340/jkns.2016.59.3.187">doi:10.3340/jkns.2016.59.3.187</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27226847">Pubmed</a> <span class="ref_v4"></span>
2. Lahiri S, Ghoshal B, Nandi D. A case of antley-bixler syndrome. (2012) Journal of clinical neonatology. 1 (1): 46-8. <a href="https://doi.org/10.4103/2249-4847.92232">doi:10.4103/2249-4847.92232</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24027687">Pubmed</a> <span class="ref_v4"></span>
2. Lahiri S, Ghoshal B, Nandi D. A case of antley-bixler syndrome. (2012) Journal of clinical neonatology. 1 (1): 46-8. <a href="https://doi.org/10.4103/2249-4847.92232">doi:10.4103/2249-4847.92232</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24027687">Pubmed</a> <span class="ref_v4"></span>
3. Antley R, Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. (1975) Birth defects original article series. 11 (2): 397-401. <a href="https://www.ncbi.nlm.nih.gov/pubmed/1227559">Pubmed</a> <span class="ref_v4"></span>
2.

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