 |
Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 1 to 10 of 200:
Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.
29 Sep 2009 
We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also ...
rec_pub_19856868-pfeiffer-like-syndrome-holoprosencephaly-newborn-maternal-smoking.htm
30 Jul 2009 INTRODUCTION - The mechanisms underlying craniosynostosis remains unknown. However, mutations in FGFR2 are associated with craniosynostotic syndromes. We previously compared gene expression patterns of patent and synostosing coronal sutures in the ...
rec_pub_19627528-medical-treatment-craniosynostosis-recombinant-noggin-inhibits.htm
8 Jul 2009 
Apert syndrome is almost always caused by a spontaneous mutation of paternal origin in one of two nucleotides in the fibroblast growth factor receptor 2 gene (FGFR2). The incidence of this disease increases with the age of the father (paternal age ...
rec_pub_19593369-the-ups-downs-mutation-frequencies-aging-account-apert-syndrome.htm
29 Jun 2009 Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical ...
rec_pub_19373776-breast-cancer-risk-increased-individuals-twist1-mutation-confirmed.htm
30 May 2009 
rec_pub_19483582-discussion-reoperation-intracranial-hypertension-twist1-confirmed.htm
30 May 2009 BACKGROUND: Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ...
rec_pub_19483581-reoperation-intracranial-hypertension-twist1-confirmed-saethre.htm
29 Apr 2009 BACKGROUND: Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad ...
rec_pub_19390453-pfeiffer-syndrome-twins-despite-improved-correction-twin-growth.htm
Le premier siècle: one hundred years of progress in the treatment of Apert syndrome.
29 Apr 2009 The year 2006 marked the 100th anniversary of the publication of Eugene Apert's article, De l'acrocephalosyndactylie in the Bulletin de la Société des médecins des hôspitaux de Paris. During the last century, much progress has been made in the ...
rec_pub_19387362-le-premier-si-cle-hundred-years-progress-treatment-apert-syndrome.htm
29 Apr 2009 Evaluation of the relapse in patients with craniofacial malformation who underwent craniofacial advancement surgery is very difficult, and data are often unreliable. This is because common skeletal landmarks move from their original position, making ...
rec_pub_19381100-bas-analysis-suggesting-new-cephalometric-model-follow-patients.htm
29 Apr 2009 The frontofacial monobloc advancement is a safe, effective, and cosmetically acceptable treatment of frontal and midface retrusions present in craniofacial syndromes. Although a number of modifications have been put forward to supplement this ...
rec_pub_19369889-frontofacial-monobloc-distraction-using-stealthstation-intraoperative.htm
Results: [1-10] [11-20] [21-30] [31-40] [41-50] [51-60] [61-70] [71-80] [81-90] [91-100] [101-110] [111-120] [121-130] [131-140] [141-150] [151-160] [161-170] [171-180] [181-190] [191-200]