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At least 721 records · Page 40Linked to original sources
PubMed1996

Craniosynostosis in neural tube defects: a theory on its pathogenesis.

BACKGROUND: In most cases, craniosynostosis is a sporadic occurrence of unknown etiology. Efforts to ascertain the exact, cause of this deformation often fall to reveal its origin and pathogenetic mechanism. Some previous reports have described isolated instances of the association of neural tube defects (NTD) and craniosynostosis, but in none of them has a causal relationship been established to explain this coincidence, apart from a fortuitous sequence of congenital defects. METHODS: We have reviewed the clinical records of 40 patients diagnosed with craniosynostosis who were studied at our hospital over a 22-year period, for the purpose of determining the possible etiologies of this cranial deformation. RESULTS: We found that three children with unilateral coronal synostosis had associated NTD-an incidence of 7.5%. Two children had cephaloceles and the third harbored a lumbosacral myelomeningocele. In these three cases, the craniosynostosis was noted immediately after birth and before the development or treatment of hydrocephalus. CONCLUSION: We think that there must be an alternative explanation for the association of craniosynostosis and NTD other than overdrained hydrocephalus or chance association. We advance the hypothesis that in these cases the cause of the premature coronal synostosis was the lack of cerebral expansion. Since brain expansion and intracranial pulse pressure determine the growth and shape of the overlying cranial vault, the dampening effect of the malformation sac (myelomeningocele or cephalocele) on the intracranial pressure and on the pulse pressure may lead to close contact of the affected bones and to the premature closure of the coronal suture. The possibility of fetal head constraint because of diminished fetal activity due to the NTD as a contributory factor is also suggested.

Craniosynostoses↗
PubMed1981

Application of the biological principle of induced osteogenesis for craniofacial defects.

Demineralised bone implants were used for cranio-maxillofacial reconstruction and construction in 34 patients, 28 with congenital deformities and 6 with acquired defects. The patients' ages ranged from 15 months to 59 years (mean 18 years). In 33 cases, the implants were obtained from cadaver femurs; in 1 case, the implant was prepared from the patient's own skull. Early healing was assessed by clinical and radiographic examination and, when appropriate, by biopsy. Longer follow-up will be required to determine whether resorption has been avoided. The clinical advantages are rapid union, healing of large defects, avoidance of harvesting procedures, and the potentially unlimited supply of banked material.

Adolescent↗
PubMed1997

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

BACKGROUND: The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation. METHODS: We studied 26 patients with coronal craniosynostosis but no syndromic diagnosis, who were referred to a supra-regional specialist centre. Genomic DNA was analysed by PCR and restriction-enzyme digestion to identify the C749G mutation in FGFR3. Family members of patients found to have the mutation were also tested. FINDINGS: Eight (31%) of the 26 probands were heterozygous for the C749G mutation. In two cases, the mutation showed autosomal dominant transmission with evidence of variable expressivity; the remaining six cases were sporadic. We demonstrated in six families that the mutation had arisen de novo from clinically unaffected parents. INTERPRETATION: The C749G mutation in FGFR3 is a frequent cause of apparently non-syndromic coronal craniosynostosis. Our finding will aid genetic counselling and prenatal diagnosis. The mutation rate at this nucleotide is one of the highest described in the human genome.

Child, Preschool↗
PubMed1980

Computed tomography in primary craniosynostosis.

Computed tomography (CT) in primary craniosynostosis clearly demonstrated the superiority of CT in revealing the shape of the head, suture closure, and brain abnormalities and in follow-up after treatment.

Cranial Sutures↗
PubMed2000

Ocular plagiocephaly: ocular torticollis with skull and facial asymmetry.

PURPOSE: To observe facial asymmetry in patients with ocular torticollis to better understand its cause. DESIGN: Observational case series. PARTICIPANTS: Forty-four consecutive patients with ocular torticollis in one author's (MFG) private practice were examined for facial asymmetry from January 1998 to August 1998. Some of these, as well as selective others before January 1998 were photographed for a total of 53 photos. METHODS: One author (MFG) examined the frontal, maxillary, and mandibular facial areas of 44 consecutive torticollis patients for appearance of unilateral compression or reduced mass. The laterality of such findings was compared with the side of the head turn or tilt. Photographs of 53 selected ocular torticollis patients were inspected and the direction of nasal tip and columella deviation compared with the direction of head tilt or turn. MAIN OUTCOME MEASURES: Subjective clinical determination of appearance of unilateral facial compression or reduced facial mass. Subjective photographic determination of nasal tip and columella deviation. RESULTS: Forty-three patients with 10 types of ocular torticollis examined were included. Forty-one of 43 showed compression or reduced mass on the same side as the head turn or tilt, including 3 with adult-onset strabismus. Eight nonsuperior oblique palsy patients had nasal deviation to the same side as the torticollis. Six of the eight had head tilts. Seventeen nonsuperior oblique palsy patients had nasal tip deviation to the opposite side of the torticollis. All were pure head turns. Eight superior oblique palsy patients had nasal tip deviation to the same side as the torticollis; nine had deviation opposite. CONCLUSIONS: Patients with multiple types of ocular torticollis, including face turns, show similar appearance of facial compression on the side of the torticollis, suggesting that the tilt or turn itself may cause the asymmetry. This includes face turn strabismus, in which facial asymmetry has not previously been described. Head tilts are frequently associated with nasal tip deviation to the side of the torticollis, head turns with deviation opposite. We refer to such asymmetric facial changes associated with ocular torticollis as "ocular plagiocephaly."

Craniosynostoses↗
PubMed2000

RTK mutations and human syndromeswhen good receptors turn bad.

Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.

Craniosynostoses↗
PubMed1997

FGFR activation in skeletal disorders: too much of a good thing.

During the past two years, a growing number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as causing autosomal dominant disorders of skeletal and cranial development. These mutations map to the extracellular domain, the transmembrane domain, or the tyrosine kinase domain of these receptors. Recent studies demonstrate that a common mechanism, constitutive activation of receptors signaling, underlies most, if not all, of these disorders. This suggests a normal role for FGFRs in the negative regulation of bone growth.

Amino Acid Sequence↗
PubMed1996

Craniosynostosis in babies: complications and management of 40 cases.

Forty consecutive craniofacial cases in babies operated on in a district general hospital by a craniofacial team consisting of maxillofacial and neurosurgeons are reviewed with regard to diagnosis, surgical treatment, complications and outcome. Surgery achieved the release of craniosynostosis and the treatment protocol, and perioperative complications are discussed. Dural breaches occurred on four occasions with no postoperative sequelae. Blood transfusion was required in all cases with an average replacement of 36 percent estimated blood volume (EBV). No central nervous system complications occurred but in one case a brachial plexus haematoma resulted in a temporary neuropraxia to the shoulder. No major infections or deaths occurred in this series.

Blood Transfusion↗
PubMed1996

A comparison of three-dimensional computed tomography scans and stereolithographic models for evaluation of craniofacial anomalies.

PURPOSE: This article describes the use of stereolithographic (SL) models as an adjunct to treatment planning in patients with Apert's syndrome, scaphocephaly, brachycephaly, and turricephaly. PATIENTS AND METHODS: Four syndrome patients had computed tomography (CT) scans done presurgically, and one of these patients was additionally scanned postoperatively. SL models and three-dimensional (3D) CT image reconstructions were produced from the CT data, and linear measurements were compared between the two modalities. RESULTS: All cases showed mean differences between measurements with 3D-CT and SL models of -0.3 to 0.8 mm, except on the CT scans with a gantry tilt (-1.7 mm) and the brachycephalic patient in whom larger deviations were demonstrated (-9.5 mm). CONCLUSION: The results of the study indicate that the accuracy of the SL technique is not always sufficient, necessitating additional validation studies before it can be recommended for routine clinical use.

Acrocephalosyndactylia↗
PubMed1980

Turricephaly.

An unusual case of uncomplicated turricephaly is reported, in which all the cranial sutures were prematurely fused from birth. Nevertheless, the skull underwent growth by surface deposition and resorption leaving the patient remarkably free from any neurological signs or symptoms. A review of previous cases is given and the possible etiology and pathogenesis of the disorder are discussed. Attention is drawn to the need for more relevant experimental and clinical data on the etiology and pathogenesis of craniosynostosis.

Adolescent↗