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Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 81 to 90 of 200:
A clinicoradiologic study of the shoulder in Apert syndrome.
29 Sep 2007 
To provide a comprehensive radiographic, clinical, and functional description of the shoulder in Apert syndrome. METHODS: A cohort of 9 Apert syndrome patients (ages, 9-27 years) followed at a tertiary care facility was included in this prospective ...
rec_pub_17878796-a-clinicoradiologic-study-shoulder-apert-syndrome.htm
Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review.
18 Sep 2007 BACKGROUND: Syndromic craniosynostoses (Saethre-Chotzen, Pfeiffer 1, 2, 3, Apert, Crouzon, mainly) are particular in this that a single gene defect (mostly fibroblast growth factor receptor [FGFR] 2) generates different clinical phenotypes that ...
rec_pub_17882438-brain-malformation-syndromic-craniosynostoses-primary-disorder-white.htm
Spontaneous ocular prolapse as an unusual late presentation of acrocephalosyndactyly.
30 Aug 2007 A 38-year-old man presented with an unusual complaint of spontaneous left ocular prolapse, which had occurred while scratching his lower eyelid. He was noted to have an atypical facial appearance with frontal bossing and maxillary hypoplasia. ...
rec_pub_17882001-spontaneous-ocular-prolapse-unusual-late-presentation.htm
Cancer drugs to treat birth defects.
30 Aug 2007 
rec_pub_17728773-cancer-drugs-treat-birth-defects.htm
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer.
29 Jun 2007 The Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1. This syndrome has hitherto not been associated with an increased risk of cancer. ...
rec_pub_17437280-women-saethre-chotzen-syndrome-increased-risk-breast-cancer.htm
29 Jun 2007 A patient with Apert syndrome who underwent a monobloc osteotomy with distraction advancement sustained partial unilateral vision loss as a complication from a direct carotid-cavernous fistula. Successful embolization was used to treat the fistula. ...
rec_pub_17667696-unilateral-vision-impairment-carotid-cavernous-fistula-monobloc.htm
29 Jun 2007 
Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal ...
rec_pub_17622301-apert-p-ser252trp-mutation-fgfr2-alters-osteogenic-potential-gene.htm
Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound.
29 Jun 2007 OBJECTIVES: To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of ...
rec_pub_17497749-diagnosis-apert-syndrome-second-trimester-using-2d-3d-ultrasound.htm
FGF2 effects in periosteal fibroblasts bearing the FGFR2 receptor Pro253 Arg mutation.
27 May 2007 AIM: A growing number of mutations mapped in the receptor gene for fibroblast growth factor have been implicated in several cranial development disorders including the Apert and Crouzon syndromes. The present paper investigated cellular mechanisms ...
rec_pub_17537644-fgf2-effects-periosteal-fibroblasts-bearing-fgfr2-receptor-pro253-arg.htm
Craniofacial dysmorphism in Apert syndrome.
29 Apr 2007
rec_pub_17696097-craniofacial-dysmorphism-apert-syndrome.htm
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