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Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 161 to 170 of 200:
Prenatal diagnosis of cloverleaf skull: watch the hands!
29 Jun 2005 
Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal cloverleaf skull deformity. Three types have been described, each with a different prognosis. ...
rec_pub_15980644-prenatal-diagnosis-cloverleaf-skull-watch-hands.htm
Resolution of acne following therapy with an oral contraceptive in a patient with Apert syndrome.
29 Jun 2005 
rec_pub_15965448-resolution-acne-following-therapy-oral-contraceptive-patient-apert.htm
Simultaneous multiple vector distraction for craniosynostosis syndromes.
29 Jun 2005 Syndromic craniosynostoses are commonly treated conditions in craniofacial units. The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include craniosynostosis, mid-face hypoplasia and ocular proptosis. The craniofacial management ...
rec_pub_15927152-simultaneous-multiple-vector-distraction-craniosynostosis-syndromes.htm
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
21 Jun 2005 
Apert syndrome is an autosomal dominant disorder characterized by malformations of the skull, limbs and viscera. Two-thirds of affected individuals have a S252W mutation in fibroblast growth factor receptor 2 (FGFR2). To study the pathogenesis of ...
rec_pub_15975938-abnormalities-cartilage-bone-development-apert-syndrome-fgfr2-s252w.htm
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.
30 May 2005 BACKGROUND: Saethre-Chotzen syndrome is a craniosynostosis syndrome further characterized by distinctive facial and limb abnormalities. It shows complete penetrance and variable expressivity and has been linked to the TWIST gene on chromosome 7p21; ...
rec_pub_15923834-clinical-genetic-analysis-patients-saethre-chotzen-syndrome.htm
Audiological profile in Apert syndrome.
30 May 2005 Apert syndrome is one of the craniosynostosis syndromes and is commonly associated with conductive hearing loss, but there are contradicting reports regarding the cause. Retrospective analysis of case notes of Apert syndrome patients seen between ...
rec_pub_15908623-audiological-profile-apert-syndrome.htm
[Notable bulb of jugular vein in Apert syndrome]
30 May 2005
rec_pub_15902643-notable-bulb-jugular-vein-apert-syndrome.htm
Management of hearing loss in Apert syndrome.
29 Apr 2005 BACKGROUND: Apert syndrome is one of the craniosynostosis syndromes, with a birth prevalence estimated to be between 9.9 and 15.5/million, and accounts for 4.5 per cent of craniosynostoses. Although conductive hearing loss is common in Apert ...
rec_pub_15949104-management-hearing-loss-apert-syndrome.htm
29 Apr 2005 This is a longitudinal cephalometric study of patients with craniofacial synostosis (Crouzon's and Apert's) syndromes who underwent Le Fort III advancement during early childhood. The objectives of the study were to quantify presurgical growth, ...
rec_pub_15915099-le-fort-iii-advancement-osteotomy-growing-child-affected-crouzon-s.htm
Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix.
29 Apr 2005 Apert and Crouzon syndromes are well known craniostenosis. In the last 10 years several studies were performed to provide a better understanding of the etiology and pathogenesis of these diseases. Both have an autosomal dominant mode of ...
rec_pub_15915098-apert-crouzon-syndromes-clinical-findings-genes-extracellular-matrix.htm
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