Results 101 to 110 of about 5,209 (186)
Taiwanese Journal of Obstetrics & Gynecology, 2013 Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and ...
Chih-Ping Chen +6 more
doaj +1 more source
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
core +2 more sources
Selcuk Dental Journal, 2019 Apert syndrome is a rare congenital malformation characterized by craniocinocytosis, craniofacial anomalies and symmetric syndactyly of the feet and hands.
Nazlıcan Paslı +6 more
doaj
Arquivos de Neuro-Psiquiatria, 2005 Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present.
Adriano Yacubian-Fernandes +9 more
doaj +1 more source
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.
core
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
core +1 more source
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
doaj
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
doaj +1 more source
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
doaj