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PubMed1993

Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes.

The purpose of this study is to describe and analyze Apert and Crouzon skulls from three-dimensional (3-D) reconstructions of CT-scans. 12 Apert patients and 19 with Crouzon syndrome were included in the study. The age range was 0 to 23 years. All CT-scannings were carried out according to the same protocol with a slice thickness of 2 or 4 mm and 3-D reconstructions of the craniofacial region included midsagittal and horizontal cuts. A number of qualitative characteristics of the calvaria and cranial base were recorded and the cranial base angle was measured on the 3-D models. Our results showed that Apert and Crouzon syndromes are very different in cranial development and their dysmorphology is highly age dependent. We suggest that cartilage abnormalities, especially in the anterior cranial base, play a primary role in cranial development in the Apert syndrome from very early intrauterine life. Several cranial anomalies observed postnatally, however, are caused by the resultant dysmorphic and compensatory growth and are probably compounded by early cranial deformation. The primary abnormality in Crouzon syndrome appears to be premature fusion of sutures and synchondroses. Based on the findings at birth and early infancy it would seem that such fusions occur relatively late in fetal life. The adult cranial form in Crouzon's patients is explainable by resultant dysmorphic and compensatory growth changes. Very early release of the coronal suture areas with advancement of the frontal bone is advocated in both syndromes but for somewhat different reasons.(ABSTRACT TRUNCATED AT 250 WORDS)

Acrocephalosyndactylia↗
PubMed1994

Application of purified bone morphogenetic protein (BMP) preparations in cranio-maxillo-facial surgery. Reconstruction in craniofacial malformations and post-traumatic or operative defects of the skull with lyophilized cartilage and BMP.

New ways of craniofacial reconstruction in old post-traumatic or fresh donor site craniectomy defects and in congenital malformations (Apert's and Crouzon's syndromes) are described. In all instances a stacked composite of lyophilized cartilage strips interspersed with BMP layers was applied to fill the defects and indentations or used in combination with autologous bone struts to rebuild the cranium completely in synostotic malformations. The stratified implants interlaced with BMP induced early bone formation, and in addition were rigid enough from the beginning to serve as bridging elements over and between autologous bone struts in the cage-like forehead reconstructions. The reconstructed areas became clinically solid after a few months. CT images taken in 4 cases showed progressive calcification starting in the BMP layers, sometimes already visible after a few weeks. These results indicate that the usual slow process of calcification/ossification of lyocartilage alone is considerably accelerated by the combination with BMP. From intermediate term observations (more than one year) we conclude that complete consolidation of the whole implants, so far without signs of resorption, will consistently be the final outcome of this type of reconstruction.

Acrocephalosyndactylia↗
PubMed1987

Aesthetic improvement resulting from craniofacial surgery in craniosynostosis syndromes.

A consecutive series of 21 patients with craniosynostosis syndromes (9 Crouzon's, 6 Pfeiffer's, 6 Apert's) was evaluated for reconstructive postoperative aesthetic improvement resulting from craniofacial surgery (Le Fort III, sliding genioplasty, nasal septal reconstruction and cranioplasty). The same consecutive series of patients had been previously evaluated for stability of Le Fort III advancement. All the patients were assessed at least one year post operatively. Stability of the advancement was confirmed. In the present study, various midline bony and soft tissue profile measurements were obtained from lateral cephalograms. These measurements were compared to similar measurements (standards) in normals. "Normal" standards and "normal" appearance imply harmonious and aesthetically pleasing facial features. This study showed markedly abnormal positions of the selected bony and soft tissue landmarks preoperatively compared to the normal but following surgery the measurements studied approached or were similar to the normal standards. Based on these measurements, the patient's appearance improved significantly following reconstructive craniofacial surgery. Suggestions for additional surgery based on these studies are made.

Acrocephalosyndactylia↗
PubMed1999

Midface distraction.

Since the initial application of distraction osteogenesis to the human mandible by McCarthy, distraction osteogenesis has been used for gradual lengthening of the midface in children with syndromic craniosynostosis, cleft lip and palate, hemifacial microsomia, and midface hypoplasia from other causes. Both external and internal devices are available that permit midface distraction. The background of midface distraction and the development of a Modular Internal Distraction (MID) system that permits widespread use of easily customized, buried distraction devices throughout the craniofacial region are presented. The relative and potential clinical indications for distraction, treatment planning, patient preparation, and possible surgical orthodontic interactions during distraction, as well as a variety of case examples showing the MID system, are discussed.

Acrocephalosyndactylia↗
PubMed1998

Absence of multiple extraocular muscles in craniosynostosis.

The absence of extraocular muscles, particularly the superior rectus1, 2 or superior oblique3, 4 has been recognized to cause strabismus among patients with craniosynostosis. Absence of multiple muscles is less common. In case 1 we note a patient with Pfieffer's syndrome and absent left superior rectus and inferior oblique, with the presence of only a vestigial left superior oblique and an underdeveloped and misinserted left inferior rectus. In case 2 we describe a patient with Apert's syndrome with bilateral absence of the superior rectus and superior oblique muscles. Unsuspected superior rectus absence led to a bilateral elevation deficit after inferior oblique weakening. Also, during the course of treatment, all 3 remaining recti muscles in 1 eye were disinserted. To our knowledge, this is the first report of absent extraocular muscles in Pfieffer's syndrome. Some evidence suggests that collateral anterior segment blood flow exists in cases of absent recti muscles. Further study is needed to determine whether all remaining muscles could be used for strabismus repair. Last, when patients with craniosynostosis require strabismus surgery, we feel that a limited exploration of all extraocular muscles should be carried out.

Abnormalities, Multiple↗
PubMed2000

[Value of a new first web space reconstruction in congenital hand deformities. A study of 54 patients].

INTRODUCTION: Only a few studies are available in the literature on the specific problem of the congenital contracture or absence of the first web in hand deformities, and first web reconstruction. MATERIAL AND METHODS: Sixty-seven first web plasties in 54 patients were retrospectively analyzed: they included 44 cases of classical plasties, i.e., Z-plasty (21 cases); dorsal flap plasty of the index (19 cases), thumb (1 case), or the hand (10 cases), and 16 cases of' pseudo-kite flap. RESULTS: The results were difficult to assess, as the syndromes were dissimilar and the deformities were not comparable (e.g., Apert syndrome versus Poland syndrome). However, it was found that the 'pseudo-kite' technique which was applicable to certain cases resulted in a web extension of 3.2 cm without any deepening. DISCUSSION: No method of classical assessment can be used to comprehensively evaluate the results of first web reconstruction due to the wide variability in clinical characteristics, the lack of patient cooperation in this young age group, the possible MPJ articular thumb instability, and growth factors. Although 4-flap Z-plasty is an adequate technique for non-severe first web deformities, the 'pseudo-kite' flap approach is useful in more severe cases. In 13 cases, a peroperative measurement before and following plasty was made, and a significant increase (205%) in planimetric and stereotactic gain compared to pre-plasty findings was noted. CONCLUSION: It does not seem logical to have a particular preference for a certain approach when considering first web reconstruction in congenital malformations. Each technique has its advantages and disadvantages, depending on patient age, the type of malformation, the state of the thumb, the extent of the first web deformity and the possible presence of scar tissue.

Acrocephalosyndactylia↗
PubMed1995

The molecular pathology of syndromic craniosynostosis.

Several monogenic disorders result in craniosynostosis, the premature fusion of skull sutures in the neonate, causing craniofacial malformation and, occasionally, neurological compromise. These malformations were initially classified on a clinical basis, but several recent reports have clarified the underlying mutations in many of these syndromes, allowing the complexity of the relationship between mutation and resultant phenotype to be viewed more clearly. This article summarizes the current situation regarding syndromic craniosynostosis, highlights the complementarity of clinical, cytogenetic and molecular approaches that have contributed to the improved understanding of the genetic basis of craniosynostosis, and considers the new challenges that have emerged.

Acrocephalosyndactylia↗
PubMed2003

A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis.

Apert syndrome (AS) is one of the most severe craniosynostoses and is characterized by premature fusion of craniofacial sutures. Mutations of either Ser252Trp or Pro253Arg in fibroblast growth factor receptor 2 (FGFR2) are responsible for nearly all known cases of AS. Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients. Mutant mice (Fgfr2(250/+)) are smaller in body size with brachycephaly and exhibit distorted skulls with widely spaced eyes. Unexpectedly, the premature closure of the coronal suture is accompanied by decreased, rather than increased, bone formation. We demonstrate that the Fgfr2-Ser252Trp [corrected] mutation does not cause obvious alterations in cell proliferation and differentiation; however, it results in increased Bax expression and apoptosis of osteogenic cells in mutant coronal suture. The accelerated cell death possibly reduces the space between osteogenic fronts of flat bones and results in the physical contact of these bones. Thus, our data reveal that dysregulated apoptosis plays an important role in the pathogenesis of AS related phenotypes.

Acrocephalosyndactylia↗
PubMed1996

Hearing loss in the Saethre-Chotzen syndrome.

A three-generation family with Saethre-Chotzen syndrome and an isolated case are presented. The proband presented with conductive hearing loss. His mother and grandmother showed minor features of the syndrome including conductive hearing loss. Symptoms of the craniosynostosis syndromes can include stapes ankylosis, a fixed ossicular chain in a too small epitympanum, and small or even absent mastoids. The proband was treated with a bone-anchored hearing aid (BAHA) instead of reconstructive middle ear surgery. Current literature on the results of ear surgery is reviewed. In general, reconstructive middle ear surgery should be considered if congenital anomalies of the middle ear are the only presenting symptom. In cases with additional anomalies such as atresia of the ear canal or damage due to chronic ear infections, the outcome of reconstructive surgery to correct the anomalous ossicular chain is unsatisfactory. In such cases of the BAHA is probably the best solution.

Acrocephalosyndactylia↗
PubMed2000

Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

Apert syndrome is an autosomal dominant condition characterized by craniosynostosis and severe syndactyly, caused by two recurrent mutations in the fibroblast growth factor receptor 2 gene (FGFR2). The genotype-phenotype correlations of 21 patients with Apert syndrome were analysed as to the craniofacial appearance following surgery and the degree of syndactlyly. The craniofacial appearance following craniofacial surgery was better in patients with the P253R mutation, whereas these patients showed a more pronounced severity of the syndactyly.

Acrocephalosyndactylia↗
PubMed1997

Twist and shout.

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Acrocephalosyndactylia↗
PubMed1997

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders of craniosynostosis in humans and is characterized by craniofacial and limb anomalies. The locus for Saethre-Chotzen syndrome maps to chromosome 7p21-p22. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype. We mapped TWIST to human chromosome 7p21-p22 and mutational analysis reveals nonsense, missense, insertion and deletion mutations in patients. These mutations occur within the basic DNA binding, helix I and loop domains, or result in premature termination of the protein. Studies in Drosophila indicate that twist may affect the transcription of fibroblast growth factor receptors (FGFRs), another gene family implicated in human craniosynostosis. The emerging cascade of molecular components involved in craniofacial and limb development now includes TWIST, which may function as an upstream regulator of FGFRs.

Acrocephalosyndactylia↗
PubMed1997

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. ACS III has been mapped to chromosome 7p21-22. Of interest, TWIST, the human counterpart of the murine Twist gene, has been localized on chromosome 7p21 as well. The Twist gene product is a transcription factor containing a basic helix-loop-helix (b-HLH) domain, required in head mesenchyme for cranial neural tube morphogenesis in mice. The co-localisation of ACS III and TWIST prompted us to screen ACS III patients for TWIST gene mutations especially as mice heterozygous for Twist null mutations displayed skull defects and duplication of hind leg digits. Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses.

Acrocephalosyndactylia↗