(1) The clinical study of the major cranio-facial malformations such as Apert syndrome, Treacher-Collins syndrome, Blepharophimosis and Bilateral Cleft Palate patients, lead us to note a similarity of the orbito-palpebral region.
(2) Apert-Crouzon syndrome (formerly ACS type 2; 10130) is now considered a subset of autosomal dominant Apert acrocephalosyndactyly type 1 (10120), with features of craniosynostoisis, syndactyly of all extremities, maxillary hypoplasia, "parrot-beaked" nose, hypertelorism, exophthalmos, external strabismus, and short upper lip.
(3) Furthermore, the investigation indicated that the conventional linear coronal craniectomy cannot be expected to improve the craniofacial growth pattern in patients with Apert syndrome.
(4) Several years follow up of 3 patients aged from 4 to 14 years with acrocephalosyndactyly of Apert Syndrome type is described.
(5) A detailed examination of a stillborn fetus with Apert's syndrome showed several unexpected findings, which prompted a reevaluation of the heretofore generally accepted hypotheses regarding the cause of the dysmorphic craniofacial features in this syndrome.
(6) The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the calvaria and its early postnatal development.
(7) Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism.
(8) We suggest that hydrocephalus should be considered as a major associated malformation, and a complete evaluation with sonogram and computed tomography scan is recommended in any newborn suspected of having Apert syndrome after routine cephalometric measurement.
(9) Ten infants and children who presented with craniofacial dysostosis are discussed; four had Apert's syndrome, four had Crouzon's syndrome, one had Pfeiffer's syndrome, and one had hypertelorism.
(10) Success in the treatment of Apert's syndrome depends not only on the quality of surgical correction but also upon its timing.
(11) Ten children with Apert's syndactyly underwent early surgical intervention (mean age 8.4 months) as part of a staged program of digital separation leading to completion of both hands by the age of 2 years.
(12) This association is apparently rare and we think that this may represent a distinct syndrome separate from Apert syndrome.
(13) The association of the esophageal deformity with the Apert-syndrome is discussed.
(14) Upper airway compromise, consisting of obstructive sleep apnea and cor pulmonale, may result from reduced nasopharyngeal and oropharyngeal dimensions in the Apert craniofacial configuration.
(15) Patient diagnoses included facial clefts, hypertelorism, Treacher Collins syndrome, and craniofacial dysostosis (Crouzon's and Apert's syndromes).
(16) The Apert pituitary fossa and basi-occiput are significantly larger than normal.
(17) This report appears to represent the first known example of germinal mosaicism in Apert syndrome.
(18) One minor (hip dysplasia) and one major birth defect (Apert syndrome) were seen.
(19) The oral manifestations of Apert syndrome are compared and contrasted with those of Crouzon syndrome.
(20) In a patient of our hospital, who underwent surgery twice, a typical case of Apert-syndrome was diagnosed.
Pert
Definition:
(a.) Open; evident; apert.
(a.) Lively; brisk; sprightly; smart.
(a.) Indecorously free, or presuming; saucy; bold; impertinent.
(v. i.) To behave with pertness.
Example Sentences:
(1) To date we have analysed members of 28 DMD families (10 familial, 18 sporadic) and six BMD families (four familial, two sporadic) with the closely linked pERT probes 87-1, 87-8, and 87-15 (DXS164).
(2) The Electrodyn sprayer was compared with a compression sprayer (Hudson X-pert) for residual application of cypermethrin, a pyrethroid insecticide, to control the malaria vectors Anopheles arabiensis Patton and An.
(3) Analysis of cloned segments of X chromosome DNA from the patient and her son showed the XmnI(Asp) alleles of pERT 87-15 and the TaqI alleles of pERT 87-8 in both patients.
(4) Most of the PERT clones were mapped to human chromosome (chr) 2p23-2pter, where the N-myc gene is located.
(5) Richard Beckinsale was Geoffrey, Paula Wilcox was Beryl, pretty, pert and given the best lines: "Beryl, we live in a permissive society."
(6) Whaanga said: "My scars are not ugly, they mean I'm alive" – and to me they're much more impressive than a perfect, pert cleavage.
(7) The air pulsed automatic tonometer X-PERT NCT has been tested in hospitals on glaucomatous patients.
(8) Determining the minimum time (to), the maximum one (tp) and the more frequent time (tm) of each activity and applying the statistic method PERT, one gets the probable duration (te) of every activity and the critical path of the net is placed in evidence.
(9) Probe pERT-84 maps to the same fragment, within 750 kb of XJ1.1.
(10) RFLP analysis revealed that the affected male and an unaffected sister shared a complete Xp21 haplotype while the affected sister had inherited a recombinant Xp21 region resulting from a crossover between pERT 87-15 and J-Bir.
(11) L. M. Kunkel and his colleagues isolated genomic sequences (PERT 87) from within a large deletion causing DMD, whereas our group isolated genomic sequences (XJ) spanning the junction of an X-autosome translocation causing the disease.
(12) The insertion is demonstrated by field-inversion gel electrophoresis as an enlarged SfiI fragment hybridizing to probe J-Bir, while neighboring SfiI fragments (detected by probes PERT 87 and J-66) are unchanged.
(13) The recombinant DNA study showed a recombinant chromosome with a crossover between pERT 87-8 and pERT J-Bir in the manifesting carrier.
(14) On my first day at primary school, my teacher, Mr Smith, said in front of the class, “What kind of person calls their child Roo-pert?” Put me off school for ever.
(15) Photograph: Charlotte Pert The government then offered $5,000 to each family, but has been accused of dragging its heels over the payments.
(16) Denise has a small, trim nose; more decorous than pert.
(17) Residual effect and cost-benefit were evaluated and compared to the standard DDT spraying technique using the Hudson X-pert sprayer.
(18) Gluttony was, as Francine Prose (author of a pert monograph, Gluttony ) puts it, all about the "inordinate desire" for food, which makes us "depart from the path of reason".
(19) By applying over 100 fold excessive CTX and liver single strand cDNA to the CB double strand cDNA, subtractive hybridization was carried out by phenol-emulsion-reassociation-technique (PERT), in which the common expressed housekeep genes would be eluted by restrict site ligation, and CB specific cDNA flanking with EcoRI site in both ds cDNA ends could be cloned into lamda gill phage.
(20) The use of PERT as a standardized process for the placement of patients in community facilities is illustrated and advocated by the authors.