Apert syndrome Acrocephalosyndactyly: a case report
, 2013 Apert syndrome is named for the French physician. Eugene Apert in 1906 described the syndrome acrocephalosyndactylia. It is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of
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Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity. [PDF]
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Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome. [PDF]
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The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review. [PDF]
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Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome. [PDF]
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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. [PDF]
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Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis. [PDF]
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