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Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 71 to 80 of 200:
Palpebral fissure changes after monobloc frontofacial advancement in faciocraniosynostosis.
30 Dec 2007 
There is virtually no literature on the effect of correction of syndromal faciocraniosynostosis with monobloc advancement on the palpebral fissure shape. Using image processing software, we measured the effect of monobloc advancement on the position ...
rec_pub_18216673-palpebral-fissure-changes-monobloc-frontofacial-advancement.htm
30 Dec 2007 In a retrospective study, distance measurements of nine children with craniofacial malformation were analyzed. The accuracy of measurements was compared when measured on a workstation using a 16-slice multidetector spiral computed tomography and on ...
rec_pub_18216660-accuracy-craniofacial-measurements-computed-tomography-three.htm
Monozygotic twins with Apert syndrome.
30 Dec 2007 Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2. Most patients with Apert syndrome have this as an autosomal dominant abnormality. The majority of cases are ...
rec_pub_18215098-monozygotic-twins-apert-syndrome.htm
Anesthesia in a child with Saethre-Chotzen syndrome.
30 Dec 2007 
rec_pub_18095973-anesthesia-child-saethre-chotzen-syndrome.htm
A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.
30 Dec 2007
rec_pub_18049087-a-mutation-fgfr2-child-pfeiffer-syndrome-sacral-appendage.htm
22 Dec 2007 Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by mutations in the TWIST gene, but several 7p21.3 ...
rec_pub_18255367-twist-microdeletion-identified-array-cgh-patient-presenting-saethre.htm
15 Dec 2007 Craniosynostosis is the premature fusion of calvarial sutures. It results from abnormal differentiation or proliferation of cells within the osteogenic fronts of growing calvarial bones. To date, research has focused on animal models and in vitro ...
rec_pub_18093228-identification-genes-differentially-expressed-prematurely-fused-human.htm
Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis.
10 Dec 2007 
BACKGROUND: Craniosynostosis, the premature fusion of calvarial sutures, is a common craniofacial abnormality. Causative mutations in more than 10 genes have been identified, involving fibroblast growth factor, transforming growth factor beta, and ...
rec_pub_18076769-unravelling-molecular-control-calvarial-suture-fusion-children.htm
Tracheal anomalies complicating ventilation of an infant with Apert syndrome.
30 Oct 2007 Apert syndrome is a rare autosomal dominant disorder characterized by severe syndactyly of the feet and hands, craniofacial abnormalities, and craniosynostosis. A 7-month-old male infant with Apert syndrome who underwent direct bronchoscopy and ...
rec_pub_18063214-tracheal-anomalies-complicating-ventilation-infant-apert-syndrome.htm
An intraoperative unexpected respiratory problem in a patient with Apert syndrome.
30 Oct 2007 We present a case of a 5-year-old child who underwent four operations (three for syndactyly of the hands and one for craniofacial corrections). At the third hour of his craniofacial operation, his EtCO2 started to increase and airway resistance was ...
rec_pub_17952033-an-intraoperative-unexpected-respiratory-problem-patient-apert.htm
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