craniofrontonasal syndrome

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craniofrontonasal syndrome

A rare X-linked syndrome (OMIM:304110) characterised by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.

Molecular pathology
Defects of EFNB1, which encodes a cell surface GPI-bound ligand for ephrin receptors, cause craniofrontonasal syndrome.

craniofrontonasal syndrome

(krā″nē-ō-frŭn″tō-nā′zĭl) [″ + ″ + ″]
An X-linked disorder characterized by malformation of the cranial suture of the skull. Girls born with this disorder are more severely affected than boys, i.e., they are more likely to have dysmorphic facial and cranial features.
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After this period degradation continues much slower, except CFNs with a small polymer amount that disintegrate completely.
The volume fraction of voids in a CFN, [[phi].sub.VM], was estimated as follows:
where [V.sub.VM]--volume of voids in the composite, [V.sub.VM] = [V.sub.M]-VCEL M; [V.sub.M]--volume of the CFN sample, [V.sub.M] = [h.sub.M]S; [h.sub.M]--thickness of the CFN sample, S--area of the sample (100 [cm.sup.2]); [V.sub.CELM]--volume of cellulose fibres in the CFN, [V.sub.CELM] = [m.sub.M/[rho]CEL]; [m.sub.M]--weight of the CFN sample; [rho]CEL-density of cellulose (1.52 g/[cm.sup.3]).
where [V.sub.CEL M]--volume of cellulose in the CFN. The volume fraction of voids in the composite, [[phi].sub.V C], was determined as follows:
The structure of a CFN and its composite were studied on the Tescan, Mira/LMU Shottky scanning electron microscope (SEM) at the x 600 magnification and voltage of 15 kV.
The main components building a CFN are cellulose fibres and voids.
The SEM images of the composite do not reveal significant changes in CFN structure in comparison with untreated CFN.
The more porous CFN, the more polymer solution it can accumulate.
Values of air permeability q drop about 2-3 times for composites with a small polymer content ([[phi].sub.POL] < 0.10), in comparison with untreated CFN (Fig.
A general trend can be noted: while the volume fraction of voids in the composite reduces almost linearly (as a consequence of structural permanence of CFN [10]), air permeability drops sharply (Fig.