نتایج جستجو برای: metopic
تعداد نتایج: 145 فیلتر نتایج به سال:
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
Little is known about genes that underlie isolated single-suture craniosynostosis. In this study, we hypothesize that rare copy number variants (CNV) in patients with isolated single-suture craniosynostosis contain genes important for cranial development. Using whole genome array comparative genomic hybridization (CGH), we evaluated DNA from 186 individuals with single-suture craniosynostosis f...
Pathogenic mutations in FGFR2 and TWIST genes are detected in the majority of individuals with Crouzon, Pfeiffer, Apert, and Saethre-Chotzen syndromes. In contrast, mutations have been identified rarely in cases of nonsyndromic, single suture craniosynostosis. Recently, two studies confirming somatic mosaicism with local expression of an FGFR mutation have been reported. This study investigates...
1. Carlsen NL, Krasilnikoff PA, Eiken M. Premature cranial synostosis in X-linked hypophosphatemic rickets: possible precipitation by 1-alpha-OH-cholecalciferol intoxication. Acta Paediatr Scand 73(1):149–54, 1984 2. Currarino G. Sagittal synostosis in X-linked hypophosphatemic rickets and related diseases. Pediatr Radiol 37(8):805–12, 2007 3. Freudlsperger C, Hoffmann J, Castrillon-Oberndorfer...
The type specimen for Australopithecus africanus (Taung) includes a natural endocast that reproduces most of the external morphology of the right cerebral hemisphere and a fragment of fossilized face that articulates with the endocast. Despite the fact that Taung died between 3 and 4 y of age, the endocast reproduces a small triangular-shaped remnant of the anterior fontanelle, from which a cle...
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