Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 111 to 120 of 200:

Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.

29 Sep 2006 BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry mutations in the TWIST and ...
rec_pub_17070479-ocular-phenotype-correlations-patients-twist-versus-fgfr3-genetic.htm

Severe dehydration and acute renal failure associated with external ventricular drainage of cerebrospinal fluid in children.

29 Sep 2006 We report three paediatric cases of severe dehydration and hyponatraemia with circulatory compromise associated with the use of external ventricular drainage of cerebrospinal fluid. Two of the children had cardiac arrests. All were successfully ...
rec_pub_17061645-severe-dehydration-acute-renal-failure-associated-external.htm

Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation.

29 Sep 2006 Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). We report here a previously undescribed mechanism involved in the altered osteoblastogenesis in ...
rec_pub_17003487-down-regulation-ubiquitin-ligase-cbl-induced-twist-haploinsufficiency.htm

FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report.

29 Sep 2006 Pfeiffer syndrome is an autosomal dominant condition classically encompassing both craniosynostosis and digital abnormalities of the hands and feet. Individuals with Pfeiffer syndrome may have mutations within either fibroblast growth factor ...
rec_pub_16957473-fgfr1-pfeiffer-syndrome-craniosynostosis-additional-case-report.htm

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

29 Sep 2006 Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. This prompted a review of the central nervous system findings in all cases of Apert ...
rec_pub_16906598-apert-syndrome-prenatal-radiographic-findings-prompt-consideration.htm

Intraoral features of Apert's syndrome.

5 Sep 2006 OBJECTIVE: To evaluate the intraoral features of patients with Apert's syndrome in treatment at the Hospital of Rehabilitation and Craniofacial Anomalies of University of São Paulo (HRAC-USP), a national reference center for treatment of ...
rec_pub_17466880-intraoral-features-apert-s-syndrome.htm

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.

30 Jul 2006 BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We report a case of PS (type 3) ...
rec_pub_16955501-further-evidence-association-mutations-fgfr2-syndromic.htm

S252W mutation in Indian patients of Apert syndrome.

30 Jul 2006 Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome. They can be analyzed by amplifying the segment followed by testing for the abolition of restriction sites. We evaluated ...
rec_pub_16951439-s252w-mutation-indian-patients-apert-syndrome.htm

Ophthalmic findings in apert syndrome prior to craniofacial surgery.

30 Jul 2006 PURPOSE: To determine ophthalmic findings in patients with Apert syndrome before craniofacial surgery. DESIGN: A cross-sectional retrospective study. METHODS: Review of 63 cases (27 males, 36 females) with Apert syndrome without craniofacial surgery ...
rec_pub_16876521-ophthalmic-findings-apert-syndrome-prior-craniofacial-surgery.htm

Respiratory outcome of midface advancement with distraction: a comparison between Le Fort III and frontofacial monobloc.

29 Jun 2006 Upper airway stenosis in patients with faciocraniosynostosis is very common and often severe. Midface advancement, either with a Le Fort III or concomitantly to a monobloc frontofacial advancement, may prevent a tracheotomy or result in its ...
rec_pub_16877907-respiratory-outcome-midface-advancement-distraction-comparison-le.htm

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