Results 101 to 110 of about 5,186 (188)
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]
, 2015 Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter +13 more
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Apert′s Syndrome: A Rare Case Report
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Apert′s syndrome /Acrocephalosyndactyly is a rare, congenital disorder characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. Although the syndrome has
Madhura Dalal, Naresh C Soni
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Changes In angulation and phalangeal length of fingers and thumbs following surgical treatment for congenital clinodactyly [PDF]
, 2016 INTRODUCTION: Congenital clinodactyly is a condition characterized by the deviation of a digit or digits in the coronal plane. Angulation is often due to the presence of a delta phalanx.
Gordon, Alanna Alexandra
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FGF2 promotes Msx2 stimulated PC‐1 expression via Frs2/MAPK signaling [PDF]
, 2010 PC‐1 is an enzymatic generator of pyrophosphate and a critical regulator of tissue mineralization. We previously showed that fibroblast growth factor‐2 (FGF2) specifically induces PC‐1 expression in calvarial pre‐osteoblasts and that this occurs via a ...
Hatch, Nan E. +4 more
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Defektmissbildungen an den unteren Extremitäten [PDF]
, 2018 Zusammenfassung: Missbildungen mit Defekten an den unteren Extremitäten sind selten. Sie entstehen in der Regel als toxische Schädigung während der Schwangerschaft zwischen der 4. und der 12.Woche. Es gibt auch solche mit hereditären Ursachen.
Hefti, F.
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Case Reports in Otolaryngology, 2015 Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia.
Nobuto Onda +9 more
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Variable expressivity in acrocephalosyndactyly syndrome type I. A report of two patients
Acta Médica del Centro, 2015 Acrocephalosyndactyly type I, also called Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia and severe bone skin and symmetrical syndactyly of hands and feet.
Noel Taboada Lugo +2 more
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Craniofacial manifestations of Loeys Dietz syndrome : A case report and a review of the literature : Case report [PDF]
, 2015 症例報
Hosokawa, Ko +4 more
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