Early initiation of therapy with vosoritide: case report. Description of the first Italian patient affected by achondroplasia treated with vosoritide before 2 years of age. [PDF]
Front PediatrKalapurackal MA, Wanker P.
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Schinzel-Giedion Syndrome in One of Dizygotic Twins: Confirmation of a De Novo SET Binding Protein 1 (SETBP1) Variant and Classic Multisystem Phenotype. [PDF]
CureusThanugundla SR +4 more
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Gallbladder Hypoplasia With Intestinal Malrotation in a Patient With Apert Syndrome: A Case Report. [PDF]
Case Rep SurgEaswaran L, Vincent SA, Diaz-Miron JL.
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Diagnosing fetal apert syndrome: a case study on prenatal diagnosis and genetic insights. [PDF]
Quant Imaging Med SurgGe T +8 more
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Syndromic craniosynostosis: current concepts in intracranial hypertension, cranial base pathology, and surgical management. [PDF]
Arch Craniofac SurgLim SY.
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Strategies for Malar Implant Placement: A Review of Access, Planning, and Outcomes. [PDF]
Plast Reconstr Surg Glob OpenKauke-Navarro M +8 more
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Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines. [PDF]
Orthod Craniofac ResFarronato M +5 more
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Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]
Int Med Case Rep JMoraes PC +4 more
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From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome. [PDF]
Front PediatrLi H, Shen J, Tang M, Wan S, Zhang S.
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Cleidocranial dysplasia with complex oral manifestations: a case report. [PDF]
BMC Oral HealthÇitaku E, Çitaku E, Reshitaj A.
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