Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 91 to 100 of 200:

Syndromic craniosynostosis: from history to hydrogen bonds.

29 Apr 2007 The syndromic craniosynostoses, usually involving multiple sutures, are hereditary forms of craniosynostosis associated with extracranial phenotypes such as limb, cardiac, CNS and tracheal malformations. The genetic etiology of syndromic ...
rec_pub_17552943-syndromic-craniosynostosis-history-hydrogen-bonds.htm

MRI characterization of the glenohumeral joint in Apert syndrome.

22 Apr 2007 The features of craniosynostosis, facial dysmorphism, and distal extremity syndactyly in Apert syndrome are well known. However, there have been limited descriptions of the associated glenohumeral joint findings. We report the radiographic and MRI ...
rec_pub_17453189-mri-characterization-glenohumeral-joint-apert-syndrome.htm

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

16 Apr 2007 Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found linkage to chromosome ...
rec_pub_17503333-rab23-mutations-carpenter-syndrome-imply-unexpected-role-hedgehog.htm

What syndrome is this? Apert syndrome.

27 Feb 2007
rec_pub_17461821-what-syndrome-apert-syndrome.htm

Re: differential effects of FGFR2 mutation in ophthalmologic findings in Apert syndrome.

27 Feb 2007
rec_pub_17414305-re-differential-effects-fgfr2-mutation-ophthalmologic-findings-apert.htm

Exorbitism correction of faciocraniosynostoses by monobloc frontofacial advancement with distraction osteogenesis.

27 Feb 2007 Monobloc frontofacial advancement with internal distraction osteogenesis is still a relatively new technique, and the literature on exorbitism correction of syndromal faciocraniosynostosis with monobloc advancement is scarce. Using a image ...
rec_pub_17414286-exorbitism-correction-faciocraniosynostoses-monobloc-frontofacial.htm

Congenital nasal malformations.

30 Jan 2007 The nose is a prominent feature of the human face. Congenital malformations of the nose, whether functional or anatomic, affect the physiologic and psychologic wellness of children who have these anomalies. Congenital nasal abnormalities may be ...
rec_pub_17346563-congenital-nasal-malformations.htm

Apert syndrome with septum pellucidum agenesis.

30 Jan 2007 Apert syndrome is characterised by craniosynostosis, associated with maxillary hypoplasia, symmetrical syndactyly of the hands and feet, and other systemic malformations including mental retardation. Apert syndrome and septo-optic dysplasia is ...
rec_pub_17304383-apert-syndrome-septum-pellucidum-agenesis.htm

Saethre-Chotzen syndrome with severe developmental delay associated with deletion of chromosomic region 7p15 --> pter.

30 Dec 2006 Saethre-Chotzen syndrome represents one of the most common types of craniosynostosis inherited as an autosomal dominant disorder while sporadic cases have also been reported. It is characterized by high penetrance and variable expressivity, leading ...
rec_pub_18019370-saethre-chotzen-syndrome-severe-developmental-delay-associated.htm

Crouzons syndrome: a case report.

30 Dec 2006 Human skull is made up of many bone joints connected by sutures. The sutures fuse in later life after the complete growth of the brain. If any of these sutures closes early, it may interfere with the normal growth of the brain. The developing brain ...
rec_pub_17921633-crouzons-syndrome-case-report.htm

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