Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 121 to 130 of 200:

Dual segmental distraction osteogenesis of the midface in a patient with Apert syndrome.

29 Jun 2006 OBJECTIVE: To present orthodontic treatment combined with dual segmental distraction osteogenesis in a patient with Apert syndrome. PATIENT: A 15-year-old boy exhibited severe midfacial hypoplasia with retruded and hypoplastic maxilla and anterior ...
rec_pub_16854210-dual-segmental-distraction-osteogenesis-midface-patient-apert-syndrome.htm

Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.

29 Jun 2006
rec_pub_16760743-ser351cys-mutation-fibroblast-growth-factor-receptor-2-gene-results.htm

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.

7 Jun 2006 This study compares the relative effects of advancing male age on multiple genomic defects in human sperm [DNA fragmentation index (DFI), chromatin integrity, gene mutations, and numerical chromosomal abnormalities], characterizes the relationships ...
rec_pub_16766665-advancing-age-differential-effects-dna-damage-chromatin-integrity.htm

[Prenatal diagnosis of craniosynostosis]

30 May 2006
rec_pub_16981657-prenatal-diagnosis-craniosynostosis.htm

Pfeiffer syndrome.

30 May 2006 Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular ...
rec_pub_16740155-pfeiffer-syndrome.htm

[Otologic findings in the Apert syndrome]

29 Apr 2006 The Apert syndrome (Acrocephalosyndactyly) is one of the craniosynostotic syndromes, which is often associated with congenial malformation in the temporal bone. We present a case of a 13 year old girl with Apert syndrome. By planning a tympanoplasty ...
rec_pub_16775848-otologic-findings-apert-syndrome.htm

Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report.

29 Apr 2006 Apert syndrome is characterized by midface hypoplasia, syndactyly of the hands and feet, proptosis of eyes, steep and flat frontal bones, and premature union of cranial sutures. Maxillary hypoplasia, deep palatal vault, anterior open bite, crowding ...
rec_pub_16643545-apert-syndrome-glucose-6-phosphate-dehydrogenase-deficiency-case.htm

A case of Pfeiffer syndrome.

30 Mar 2006 Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby ...
rec_pub_16614535-a-case-pfeiffer-syndrome.htm

Defending eponyms.

30 Mar 2006
rec_pub_16606787-defending-eponyms.htm

Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q.

30 Mar 2006 Pfeiffer-type cardiocranial syndrome (MIM 218450) was first delineated in 1987; several further patients have been reported confirming this as a distinct nosological entity. The aetiology of this condition remains unknown although an autosomal ...
rec_pub_16531733-pfeiffer-type-cardiocranial-syndrome-patient-features-condition.htm

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