نتایج جستجو برای: nonsyndromic
تعداد نتایج: 1750 فیلتر نتایج به سال:
We reviewed 25 patients ascertained through the finding of trigonocephaly/metopic synostosis as a prominent manifestation. In 16 patients, trigonocephaly/metopic synostosis was the only significant finding (64%); 2 patients had metopic/sagittal synostosis (8%) and in 7 patients the trigonocephaly was part of a syndrome (28%). Among the nonsyndromic cases, 12 were males and 6 were females and th...
PURPOSE Familial renal cell carcinoma (RCC) is genetically heterogeneous. The most common histopathologic subtype of sporadic and familial RCC is clear cell (cRCC) and von Hippel-Lindau (VHL) disease is the most common cause of inherited cRCC. Familial cRCC may also be associated with chromosome 3 translocations and has recently been described in patients with Birt-Hogg-Dube (BHD) syndrome, cau...
Nonsyndromic cleft palate (CP) is one of the most common human birth defects and both genetic and environmental risk factors contribute to its etiology. We conducted a genome-wide association study (GWAS) using 550 CP case-parent trios ascertained in an international consortium. Stratified analysis among trios with different ancestries was performed to test for GxE interactions with common mate...
OBJECTIVES Review a large series of patients with Robin sequence to document the incidence of (1) associated syndromic diagnoses; (2) co-morbid conditions; (3) frequency and type of operative management for airway compromise and feeding difficulties; and (4) possible differences in treatment between syndromic and nonsyndromic infants. METHODS Retrospective case-review of 115 patients with Rob...
(2001) Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. (2001) Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. (2003) Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. (2003) Linkage and linkage disequilibrium searched between non-syndromic cleft ...
OBJECT The authors present the results of treating infants with multiple-suture nonsyndromic craniosynostosis in whom the authors used minimally invasive endoscopy-assisted techniques and postoperative cranial molding over an 11-year period. METHODS A total of 21 patients who presented with multiple-suture (nonsyndromic) craniosynostosis were treated using minimally invasive endoscopy-assiste...
INTRODUCTION Fracture of the styloid process (SP) of the temporal bone is a rare traumatic injury in normal individuals who are not suffering from Eagle's syndrome. Diagnosis and management of this problem requires comprehensive knowledge about its signs and symptoms. This study aimed to present an isolated styloid process fracture in a nonsyndromic patient. CASE PRESENTATION A 50-year-old ma...
Correspondence to: Francesco Carinci, MD Chair of Maxillofacial Surgery University of Ferrara Arcispedale S. Anna Corso Giovecca, 203 44100 Ferrara Italy Phone/Fax: +39.0532.455582 Web: www.carinci.org E-mail: [email protected] Abstract Nonsyndromic orofacial cleft (OFC) derives from an embryopathy with failure of the nasal processes and/or fusion of the palatal shelves. This severe birth defect is...
Introduction. The temporomandibular joint (TMJ) is the most complex elegantly designed joint in the human body. Abnormal development and growth of TMJ may lead to condyle aplasia present in several syndromes expressions, but it is extremely rare when not connected to any underlying pathological disorder or in conjunction with any syndrome. Objective. A rare case of aplasia of the mandibular con...
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