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PubMed2005

Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditions.

The Museum Vrolik collection of anatomical specimens in Amsterdam, The Netherlands, comprises over 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, we rediagnosed a subset of the collection comprising dried infantile, juvenile, and adult human skulls with congenital and acquired conditions. On external examination and additional radiography, we found 58 skulls with craniosynostosis (CS) involving one or more sutures and 40 skulls with a presumed suture related condition. Most of these were part of the material collected and described by Louis Bolk (1866-1930). Analysis of his observations suggests that skull deformation because of premature suture closure depends not only on the identity of the sutures involved but also on the timing and progression of their closure and the extent of their involvement. Moreover, premature closure of the sagittal suture after 3-6 years of age appeared to be much more common than expected because it is not accompanied by skull deformation. Many of the skulls with single-suture CS were microcephalic, which may be the cause of the premature synostosis. By contrast, microcephaly may be a resulting phenomenon in multi-suture CS. We noticed that the quotient between height of the cranial vault (vertex-porion distance) and head circumference, multiplied by 100, was 26 or higher only in those CS cases with multi-suture involvement. We therefore consider this parameter, which we named "acrocephalic index", to be an indicator of multi-suture involvement in individual CS cases. In two adult skulls, the skull had a quadrangular shape, which we assumed to be correlated to the presence of an unusually interdigitated open metopic suture. We propose to name this anomaly: tetragonocephaly. Another presumed suture-related condition, bathrocephaly, was found concomitantly with basilar invagination in several cases. We hypothesize that the chronically raised intracranial pressure in these cases caused the still open lambdoidal sutures to distend and the occipital bone to protrude.

Cranial Sutures↗
PubMed1998

"No allogeneic blood transfusion" protocol for the surgical correction of craniosynostoses. I. Rationale.

Improved anesthesiological and surgical care has resulted in a progressively declining need for allogeneic blood transfusion. In infants with craniosynostosis, however, allogeneic blood transfusion is still performed as a routine procedure. In the present paper, the authors describe a protocol they have devised with the aim of limiting or even avoiding allogeneic blood transfusion even in very young patients, consequently avoiding the risks of infective or immunologic reactions associated with the procedure. The protocol is based on stimulation of the hematopoietic system with erythropoietin, selection of an appropriate age for operation when a favorable balance between fetal and adult-type hemoglobin is established (that is after 4-6 months), preoperative preparation of the autologous blood supply, and intraoperative blood salvage.

Age Factors↗
PubMed1998

"No allogeneic blood transfusion" protocol for the surgical correction of craniosynostoses. II. Clinical application.

The authors describe the results obtained in 13 consecutive cases of craniosynostosis operated on according to a protocol devised at avoiding allogeneic blood transfusion. The protocol is based on pre- and postoperative treatment with erythropoietin, preoperative autologous blood donation, preoperative normovolemic hemodilution and intraoperative blood salvage. Nine subjects were affected by simple forms of craniosynostosis, whereas the remaining 4 presented with oxycephaly or craniofacial syndromes. Five of the 13 children were under 7 months and a further 3, under 10 months of age at the time of the surgical operation. Seven children weighed less than 10 kg. Allogeneic blood transfusion was avoided in 11 of the 13 children considered. Two failures - defined as the necessity to reinfuse the patient with an allogeneic blood transfusion - were recorded, 1 of them resulting from an unexpected hemorrhage during surgery. The results obtained indicate that this protocol designed to avoid allogeneic blood transfusion can be safely applied in the great majority of children with craniosynostosis, even when the surgical correction is carried out early in life.

Blood Transfusion, Autologous↗
PubMed1998

The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

Exons 5 and 7 of the fibroblast growth factor receptor 2 (FGFR2) gene code for immunoglobulin-like domain III (IgIII) and for the region connecting the second and the third Ig domain of the receptor. Numerous mutations in these two exons have been shown to cause various craniosynostotic syndromes. Here, we describe three previously unrecognized mutations at amino acid positions 276, 301, and 314, in one nonspecific craniosynostosis and in two Crouzon patients. We also present a polypeptide model of IgIII of FGFR2. The known mutations involve five distinct structural elements of the receptor. The changes within these elements affect receptor function by various mechanisms, including altered dimerization, truncation, increased mobility between Ig domains, disintegration of IgIII, and alteration of the ligand-binding site.

Craniofacial Dysostosis↗
PubMed2006

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Crouzon Syndrome (CS), Pfeiffer syndrome (PS) and the phenotypically related Jackson-Weiss (JW) variant are three craniosynostotic conditions caused by heterozygous mutations in Fibroblast Growth Factor Receptor (FGFR) genes. Screening a large cohort of 84 patients with clinical features of CS, PS or JW by direct sequencing of genomic DNA, enabled FGFR1, 2 or 3 mutation detection in 79 cases. Mutations preferentially occurred in exons 8 and 10 of FGFR2 encoding the third Ig loop of the receptor. Among the 74 FGFR2 mutations that we identified, four were novel including three missense substitutions causing CS and a 2 bp deletion creating a premature stop codon and producing JW phenotype. Five FGFR2 mutations were found in one of the two tyrosine kinase subdomains and one in the Ig I loop. Interestingly, two FGFR2 mutations creating cysteine residues (W290C and Y340C) caused severe forms of PS while conversion of the same residues into another amino-acid (W290G/R, Y340H) resulted in Crouzon phenotype exclusively. Our data provide conclusive evidence that the mutational spectrum of FGFR2 mutations in CS and PS is wider than originally thought. Genotype-phenotype analyses based on our cohort and previous studies further indicate that in spite of some overlap, PS and CS are preferentially accounted for by two distinct sets of FGFR2 mutations. A limited number of recurrent amino-acid changes (W290C, Y340C, C342R and S351C) is commonly associated with the most severe Pfeiffer phenotypes of poor prognosis.

Acrocephalosyndactylia↗
PubMed1992

Aggressive surgical management of sleep apnea syndrome in the syndromal craniosynostoses.

Obstructive sleep apnea syndrome (OSAS) frequently develops in patients with craniosynostosis and associated midfacial stenosis. In the past, conservative measures or tracheostomy have been used to manage this condition. Although the course of OSAS in these patients is multifactorial, a major factor is the marrow nasopharyngeal space. Aggressive surgical intervention to enlarge the nasopharyngeal space can reduce the severity of OSAS and therefore avoid the need for tracheostomy. Surgical approaches include adenotonsillectomy, uvulopalatopharyngoplasty, and midface advancement.

Child, Preschool↗
PubMed1983

The surgical correction of coronal and metopic craniosynostoses.

Procedures for relief of coronal synostosis and metopic synostosis have resulted in some undesirable sequelae. The authors present combined neurological and plastic surgical modifications to prevent additional synostoses, forehead ridging, and lateral orbital wall step-off. They recommend bifrontal craniotomy with lateral wall osteotomy into the body of the zygoma and self-retaining grafts.

Craniosynostoses↗
PubMed2005

Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families.

OBJECT: The origins of both sagittal synostosis (scaphocephaly) and metopic synostosis (trigonocephaly) remain unclear. Genetic and environmental factors probably play a role. Twin and family data of patients with these conditions are presented. METHODS: Records of 860 patients with scaphocephaly and 394 with trigonocephaly were examined for prevalence of twin birth and family history. Concordance rates of disease in monozygotic (MZ) and dizygotic (DZ) twins were compared. A family history of disease was present in 5.7% of children with scaphocephaly and in 6.8% with trigonocephaly. The frequency of twins was 4.2% in sagittal synostosis and 6.8% in metopic synostosis, which is higher than in the normal population. Twenty-eight of 38 twin pairs with a scaphocephalic proband were identified to be DZ and 10 were confirmed to be MZ (MZ/DZ ratio 0.36). Twenty of 27 twin pairs with trigonocephaly were DZ and seven were MZ (MZ/DZ ratio 0.35). Concordance rates were higher in the MZ group, 30% for scaphocephaly and 43% for trigonocephaly (chi2 = 14.4091, p = 0.0001). There was a strong prevalence of boys, with a frequency of 79.1% with scaphocephaly and 75.8% with trigonocephaly. Twinning was more frequent among affected boys in both groups. CONCLUSIONS: A midline craniosynostosis is more likely to develop in twins compared with singletons. A genetic component is supported by the higher risk in MZ twins. The presence of an environmental component is reinforced by the high rate of twinning, the normal MZ/DZ ratio, and a less than 100% concordance rate in MZ twins.

Child↗
PubMed2000

[Metotopic craniosynostoses].

BACKGROUND: Premature closure of the metopic suture leads to inhibited growth of the frontal bones, producing a keel-shaped forehead (trigonocephaly). Simple metopic synostosis is usually sporadic. Trigonocephalic patients account for 8-16% of the referrals to craniofacial centers, with a marked male predominance. Intracranial pressure (ICP) may be increased, whereas shunt-dependent hydrocephalus is infrequent. Infrequently, patients have intra- or extracerebral anomalies; one third have varying degrees of neuropsychological problems. The treatment is primarily surgical. MATERIAL AND METHODS: We present two patients who during infancy developed increasingly keel-shaped foreheads, retruded orbital rims, increased biparietal diameter and close-set eyes (hypothelorism). Both had raised ICP, but normal psychomotoric development. They were operated using radical fronto-orbital surgical remodelling. RESULTS: Recovery was uneventful. Three months post-operatively, they had pleasing cosmetic results with no symptoms of increased ICP. INTERPRETATION: Where metopic craniosynostosis is suspected, the infant should be examined clinically with palpation of fontanelles and sutures, evaluated with respect to the shape and development of the facial skeleton, as well as by X-ray of the skull sutures. Radical fronto-orbital surgical remodelling gives a stable correction of the craniofacial deformity and generally a satisfactory cosmetic result.

Cephalometry↗
PubMed2001

[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].

Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and oncogenesis. At the cellular level, their function is mediated by transmembrane tyrosinekinase receptors, fibroblast growth factor receptors. Four genes encoding fibroblast growth factor receptors have been identified, and mutations in three of these, FGFR1, FGFR2, and FGFR3, can cause different congenital, autosomal dominant disorders affecting the craniofacial and skeletal development: craniosynostosis and chondrodysplasias. The craniosynostosis syndromes: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Muenke syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome can be caused by mutation in either FGFR1, FGFR2, or FGFR3. Saethre-Chotzen syndrome can also be caused by mutation in a functionally related gene, ACS. The same mutation can cause different syndromes, and the same syndrome can be caused by mutations in different genes. The chondrodysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia are all caused by mutations in FGFR3.

Bone Diseases, Developmental↗