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Results for “CRANIOSYNOSTOSES”

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At least 667 records · Page 37Linked to original sources
PubMed2001

Calvarial vault remodeling for sagittal synostosis.

Sagittal synostosis is the most common form of craniosynostosis (i.e., premature fusion of cranial sutures). Sagittal synostosis, which is the premature fusion of the sagittal suture, occurs in 56% to 58% of all reported cases of craniosynostosis. This article describes calvarial vault remodeling, the procedure of choice at Children's Hospital Los Angeles for surgical intervention to correct sagittal synostosis. Perioperative interventions to minimize patients' risks and maximize benefits are explained. A case study is presented to describe the experience of one patient and his family members.

Cranial Sutures↗
PubMed1996

Insidious craniosynostosis and chronic papilledema in childhood.

PURPOSE: We studied a case of chronic papilledema in a 5-year-old child with visual loss who presented no obvious cosmetic abnormalities. METHODS: Neuroradiologic investigations were suggestive of craniosynostosis. The child underwent decompressive cranial surgery. Postoperatively, the papilledema totally regressed, and visual acuity recovered to 20/20 in both eyes. RESULTS: The chronic papilledema was confirmed to be related to harmonious oxycephaly. CONCLUSION: Insidious craniosynostosis is an unusual cause of chronic papilledema in childhood. The papilledema may be resolved and visual loss prevented by surgery.

Child, Preschool↗
PubMed1985

Basilar multiplane cephalometric analysis.

This article presents a method of cephalometric tracing and analysis using the basilar view cephalogram and discusses its role in diagnosis and treatment planning. Landmarks and structures found in each of three separate basilar planes are defined and instructions for tracings are presented. The analysis is applied to the study of orbital hypertelorism, craniofacial synostosis, and hemicraniofacial microsomia. The multiplane tracing technique is demonstrated to provide a three-dimensional concept of deformities in the craniofacial skeleton. A method to determine an anteroposterior midline construct from structures in the cranial base is described. As is practiced with the lateral cephalogram, presurgical tracings of the basilar film may be manipulated to simulate the skeletal changes anticipated in surgery.

Cephalometry↗
PubMed2001

Increased osteoblast apoptosis in apert craniosynostosis: role of protein kinase C and interleukin-1.

Apert syndrome is an autosomal dominant disorder characterized by premature cranial ossification resulting from fibroblast growth factor receptor-2 (FGFR-2)-activating mutations. We have studied the effects of the prominent S252W FGFR-2 Apert mutation on apoptosis and the underlying mechanisms in human mutant osteoblasts. In vivo analysis of terminal deoxynucleotidyl transferase-mediated nick-end labeling revealed premature apoptosis of mature osteoblasts and osteocytes in the Apert suture compared to normal coronal suture. In vitro, mutant osteoblasts showed increased apoptosis, as demonstrated by terminal deoxynucleotidyl transferase-mediated nick-end labeling analysis, trypan blue staining, and DNA fragmentation. Mutant osteoblasts also showed increased activity of caspase-8 and effector caspases (-3, -6, -7) constitutively. This was related to protein kinase C activation because the selective protein kinase C inhibitor calphostin C inhibited caspase-8, effector caspases, and apoptosis in mutant osteoblasts. Apert osteoblasts also showed increased expression of interleukin (IL)-1alpha, IL-1beta, Fas, and Bax, and decreased Bcl-2 levels. Specific neutralizing anti-IL-1 antibody reduced Fas levels, Bax expression, effector caspases activity, and apoptosis in mutant cells. Thus, the Apert S252W FGFR-2 mutation promotes apoptosis in human osteoblasts through activation of protein kinase C, overexpression of IL-1 and Fas, activation of caspase-8, and increased Bax/Bcl-2 levels, leading to increased effector caspases and DNA fragmentation. This identifies a complex FGFR-2 signaling pathway involved in the premature apoptosis induced by the Apert S252W FGFR-2 mutation in human calvaria osteoblasts.

Acrocephalosyndactylia↗
PubMed1999

The neurodevelopmental basis of schizophrenia: clinical clues from cerebro-craniofacial dysmorphogenesis, and the roots of a lifetime trajectory of disease.

A "read-back" analysis of schizophrenia, from chronic illness, through the first psychotic episode, to psychosocial and neurointegrative abnormalities of childhood and infancy, leads to the intrauterine period as a primary focus for etiological events. Evidence for a characteristic topography of cerebro-craniofacial dysmorphology in schizophrenia is reviewed, and interpreted to estimate: (i) the timing of dysmorphic event(s); (ii) the nature of early cellular and molecular mechanisms which might determine that topography of dysmorphogenesis; and (iii) the population homogeneity of these processes. It is argued that early cerebro-craniofacial dysmorphogenesis in schizophrenia should be conceptualized as a first stage not in a static but rather in a dynamic, lifetime trajectory of disease.

Brain↗
PubMed1997

Craniofrontonasal dysplasia.

A series of 10 patients with craniofrontonasal dysplasia presenting to the Oxford Craniofacial Unit since 1983 is presented. In addition to the well-described combination of coronal synostosis and frontonasal dysplasia, 9 patients had very characteristic dry, curly or frizzy hair. All the patients were female. Recognition of the syndrome is important for genetic counselling, although the precise mode of genetic transmission is unclear with females predominating and males being less severely affected. Surgical correction was in two stages: early frontal advancement followed by correction of hypertelorism when the child became aware of the deformity. Four patients had their craniosynostosis treated in the Oxford Craniofacial Unit. Three patients had previously had frontal remodelling elsewhere. Nine patients had surgery for hypertelorism. The preferred technique for hypertelorism correction was facial bipartition. Following hypertelorism correction, the excess skin was allowed to redrape and subsequently dealt with by medial canthoplasties, thus avoiding a midline scar. Careful attention to the primary frontal advancement procedure is important to avoid complications following difficult dissection of the frontal bone flap at the time of hypertelorism correction.

Abnormalities, Multiple↗
PubMed1971

Craniostenosis.

Explore the source record for details and available documents.

Adolescent↗
PubMed2000

Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome.

The authors report on a child with indifferent external genitalia consisting of severe micropenis with penile urethra leading to the tip of the glans and bilateral cryptorchidism. Diagnostic workup findings showed a female karyotype, homozygous 21-hydroxylase deficiency, and excessive testosterone exposure prenatally as a consequence of maternal pregnancy luteoma, altogether causing this unusual phenotype. In addition, the girl suffered from skeletal anomalies consistent with the diagnosis of Antley-Bixler syndrome. Our case shows that, although the association of congenital adrenal hyperplasia with other syndromes is rare, and even if other possible reasons for in utero virilization are present, complete diagnostic workup including karyotyping and hormonal status should be done in all patients with ambiguous genitalia, especially in cases of an unusual phenotype. The authors report on the diagnostic procedures and discuss the surgical approach in this particular case, never described before in the literature.

Abnormalities, Multiple↗