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At least 433 records · Page 24Linked to original sources
PubMed1998

Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.

We examined the gene mutations of fibroblast growth factor receptor 2 (FGFR2) in Japanese syndromic craniosynostotic patients. Subjects included 1 patient with Apert's syndrome, 1 patient with Crouzon's syndrome, and 3 patients with Pfeiffer's syndrome, as well as two control patients. The genomic deoxyribonucleic acid of each patient was extracted, and the mutation sites of the FGFR2 gene were amplified and sequenced. One patient with Apert's syndrome showed a FGFR2 mutation of S252W (TCG-->TGG), 1 patient with Crouzon's syndrome had a mutation of C342W (TGC-->TGG), and the 3 patients with Pfeiffer's syndrome had mutations of T341P (ACG-->CCG), C342S (TGC-->TCC), and D321A (GAC-->GCC). The role of FGF families and the effect of FGFR2 mutations on craniofacial morphogenesis are discussed.

Acrocephalosyndactylia↗
PubMed1998

The elbow in syndromic craniosynostosis.

Craniosynostosis may occur in conjunction with limb and visceral anomalies in more than 100 syndromes and may include anomalies of the elbow. Apert's, Pfeiffer's, Crouzon's, and Saethre-Chotzen syndrome have been linked with anomalies of the elbow, but the incidence and severity of such anomalies is unknown. A prospective radiographic study was undertaken to establish the types, incidence, and severity of elbow anomalies in patients with either Apert's, Pfeiffer's, Crouzon's, or Saethre-Chotzen syndrome attending the Craniofacial Centre at Great Ormond Street Hospital during a 12-month period. This study showed that elbow anomalies were very common in Apert's and Pfeiffer's syndrome, but less so in Crouzon's syndrome. The elbows in all patients with Saethre-Chotzen syndrome were normal. A range of anomalies was seen, with overlap between the syndromes. The severest anomaly seen in children with Crouzon's, Pfeiffer's, and Apert's syndrome was complete synostosis, which may require surgical intervention in due course. The results of this study suggest that the incidence of elbow anomalies in Apert's, Pfeiffer's, and Crouzon's syndrome is higher than the current literature suggests. Synostosis can be so severe that orthopedic review as part of the management of these children may be beneficial and may become increasingly important as more of these children survive into adulthood.

Acrocephalosyndactylia↗
PubMed1998

Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth factor receptors (FGFRs) have been described. These substitutions arise mainly in the FGFR-2 gene and to a much lesser degree in the FGFR-1 and FGFR-3 genes. We present a patient with an apparently sporadic type of Pfeiffer's syndrome, exhibiting nearly all associated features of this syndrome. A mutation in the FGFR-2 gene was found, namely serine351-cysteine. This mutation has been reported in only one patient so far, whose phenotype could match both Crouzon's and Pfeiffer's syndromes.

Acrocephalosyndactylia↗
PubMed1998

Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis.

The authors report the rare existence of a family that includes an older sister with Pfeiffer syndrome and a younger sister with achondroplasia. Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiffer syndrome, and a G380R mutation in the FGFR3 gene in the patient with achondroplasia. Both mutations have been reported previously. Their parents had no mutation in either locus. This result suggests the possibility that there may be predisposing factors for different FGFR mutations.

Achondroplasia↗
PubMed1999

Monobloc and facial bipartition distraction with internal devices.

Distraction osteogenesis (DO) permits gradual lengthening of the craniofacial skeleton. With the advent of new internal devices, monobloc (M) and facial bipartition (FB) DO are feasible. The rationale behind M and FB distraction is (1) gradual advancement of the M segment is not associated with a substantial retrofrontal dead space; (2) because 5 to 7 days elapse prior to distraction, the nasofrontal opening, in theory, is allowed to remucosalize; (3) gradual expansion of the soft tissues takes advantage of skin creep, potentially limiting relapse; (4) the procedure appears to be less invasive with decreased blood loss and operative time, enabling its use in infants; (5) overdistraction may eliminate or reduce the frequency of subsequent procedures; and (6) the procedure may be combined with FB and skull vault remodeling to provide excellent results in more complex craniofacial dysostosis problems. Five children underwent M advancement (N = 3) and M with FB (N = 2) at 9 months to 5 years of age to correct functional abnormalities such as corneal exposure, increased intracranial pressure, and apnea, as well as severe craniofacial disfigurement. Each patient underwent from 22 to 30 mm of distraction with the Modular Internal Distraction (MID) system, developed by the first author (SRC). There was one infection late in the series along the DO cable track. There were no cases of epidural abscess. In conclusion, MDO, with and without FB, appears to be a safe and effective technique for transcranial frontofacial advancement. The morbidity of the procedure appears to be less than that of conventional M advancement.

Acrocephalosyndactylia↗
PubMed2000

Craniofacial distraction osteogenesis en bloc.

Bone distraction of the superior and medial thirds of the craniofacial skeleton en bloc, avoiding a frontal craniectomy is presented. We applied this procedure in eight patients who were more than 5 years old with different types of craniofacial synostosis and who had not received previous treatment, and with a normal frontal shape. During monobloc advancement, major complications were encountered in older patients, especially the impossibility of the brain to expand rapidly to fill the retrofrontal dead space. Distraction osteogenesis of the craniofacial skeleton en bloc (without craniectomy) is feasible. Miniplates and screws are avoided as well as the possibility of frontal relapse or fractures of the frontozygomatic region. The patients did not need skull vault remodeling, except for a small cranioplasty at the bregma zone. The results obtained were satisfactory and stable at the time. This procedure avoids any kind of osteosynthesis, there is no extradural dead space, the operative time is brief, and blood loss is minimal. The inconvenience is the necessity of a second operation to remove the distractor.

Acrocephalosyndactylia↗
PubMed2000

Saethre-Chotzen syndrome: review of the literature and report of a case.

Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area.

Acrocephalosyndactylia↗
PubMed2001

Corneal ulcers in patients with Apert syndrome.

Morbidity from corneal ulcers is often severe in patients with Apert syndrome. These patients are at an increased risk of developing corneal ulcers because of the compromised corneal environment secondary to exophthalmos. During the past 6 years, three of five patients treated for Apert syndrome at our hospital have developed corneal ulcers. We present a case series discussing each patient, reasons for the development of ulceration, treatment, and outcomes. Morbidities in our group of patients included decreased visual acuity, opacified corneas, amblyopia, and blindness. Treatment is often difficult and complex. Therefore, an ophthalmologist should be an active team member in treating Apert patients.

Acrocephalosyndactylia↗
PubMed2001

Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.

Recently, mutations of the fibroblast growth factor receptor ( FGFR ) genes have been detected in syndromic craniosynostosis. We examined nucleotide sequences of FGFR2 in Japanese craniosynostosis patients (Crouzon syndrome: 9 cases; Apert syndrome: 6 cases; scaphocephaly: 3 cases as non-syndromic patients) by polymerase chain reaction (PCR) followed by direct sequencing methods. The results demonstrated FGFR2 heterozygous mutations at codons 252, 290 of exon 7, and at codon 342, 354 of exon 9 in Crouzon syndromes. In Apert syndrome patients, Ser252Trp and Pro253Arg were detected in five and one patients, respectively. No mutation was detected in one case of Crouzon, all cases of scaphocephaly and healthy individuals. Thus far sequence analysis of FGFR2 in syndromic craniosynostosis has been reported in many white patients, whereas in Japanese only several cases have been studied. The current study with 18 patients confirmed that a similar series of mutations occur in Japanese patients as in white patients regardless of ethnicity and environment. The frequency of the mutation was 82% (9/11 cases) in Japanese Crouzon patients. The ratio of S252W:P253R was 5 : 1 in Japanese Apert patients. Moreover, in Japanese Apert patients, complication rate of cleft palate was 60% for mutation of Ser252Trp and 0 of 2 patients for Pro253Arg, with their syndactyly score being 4.90 and 5.50, respectively.

Acrocephalosyndactylia↗
PubMed2003

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

Crouzon and Apert syndromes have been reported to be associated with mutations in Fibroblast Growth Factor Receptor 2 (FGFR2) gene in various ethnic groups, but never in Southeast Asian subjects. Therefore, the authors conducted a study to characterize 11 Thai patients: four with Crouzon syndrome and seven with Apert syndrome. All cases are sporadic. Mean paternal and maternal ages were 38.7 and 28.6 years, respectively. Molecularly, all patients were found to have mutations in the FGFR2 gene. Three mutations (C278F, S347C, S351C) were detected in all Crouzon patients with two having S351C. The seven patients with Apert syndrome have either S252W or P253R mutation. The authors' findings that sporadic cases were associated with advanced paternal age and that they all had mutations in FGFR2 are consistent with previous reports. This is another observation supporting the causative role of FGFR2 mutations in Crouzon and Apert syndromes.

Acrocephalosyndactylia↗
PubMed2003

Hand abnormalities associated with craniofacial syndromes.

One in approximately every 626 newborns has a congenital anomaly of the upper limb. Frequently, patients with craniofacial syndromes may have associated hand anomalies. In this article, we try to answer why certain craniofacial syndromes have associated hand anomalies through an examination of the common factors in development and maldevelopment of these two very complex structures. In general, we conclude that the common factors responsible for patients with craniofacial syndromes that have associated hand anomalies are the common time course of development of these two structures and certain mutations of genes controlling limb and craniofacial development. This article attempts to elucidate the sequence and crucial factors responsible for proper limb growth, as we understand it today. The most common craniofacial syndromes that include craniosynostosis and upper extremity anomalies are presented. These are Apert's, Saethre-Chotzen, Pfeiffer's, and Carpenter's syndromes. As we discuss each of these syndromes, basic principles regarding the surgical correction of the associated hand anomalies are described. We hope that this overview serves to give the pediatrician and the craniofacial specialist general guidelines for what to look for and expect in the hands and upper extremities of children under their care.

Acrocephalosyndactylia↗
PubMed2004

Early failure of absorbable plating in a patient with syndromic brachycephaly.

The use of bioabsorbable plating systems for rigid fixation after cranial remodeling surgery has become the standard of care in the treatment of syndromic and nonsyndromic craniosynostoses at pediatric craniofacial centers in North America. The advantages of these absorbable plating systems over metallic plates and screws have been well documented. The absorbable plates have been used with remarkable safety and efficacy for more than 15 years. An unusual case of repeated early failure of an absorbable plating system in a patient with syndromic brachycephaly complicated by the development of hydrocephalus is reported. The reoperative rates for cranial remodeling surgery at our institution and the possible causes for this failure are discussed.

Absorbable Implants↗
PubMed2004

Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.

Acrocephalosyndactylia↗
PubMed2004

"Cat's cradle" midfacial fixation in distraction osteogenesis after Le Fort III osteotomy.

Distraction osteogenesis has provided a powerful technique for the treatment of severe midfacial hypoplasia. Skeletal fixation is a critical component of successful distraction osteogenesis. This is a report on the development of a new approach to bone fixation for distraction osteogenesis of the midface, based on circumferential suspension of the entire midfacial skeleton using surgical wires placed through the soft palate. This technique offers the advantages of (1) complete control of the attitude of the midface in terms of a precise dispersion of forces that can determine the desired pitch, yaw, and roll of this skeletal complex during the active phase of distraction, (2) being compatible with young children in the deciduous dentition stage because it obviates the need for rigid fixation devices on the maxillary lateral walls in the proximity of numerous dental follicles of the unerupted adult dentition, (3) actually serving as the instrument for posterior maxillary "lift" in cases of skeletal open bite malocclusions (frequently seen in the craniosynostoses), thereby allowing the clinician to determine the final occlusal and palatal planes and simultaneously close the open bite. An illustrative case of a 5(1/2)-year-old girl with Apert syndrome is presented wherein her ventilatory obstruction and ocular proptosis were significantly improved.

Acrocephalosyndactylia↗
PubMed2004

Postnatal onset of craniosynostosis in a case of Saethre-Chotzen syndrome.

Saethre-Chotzen syndrome is a craniosynostosis syndrome characterized by facial and limb abnormalities. It is caused by mutations in the TWIST gene on chromosome 7p21. To date, more than 80 different mutations in TWIST have been reported in the literature.Recently, large deletions of chromosome 7p, encompassing the TWIST locus, have been detected in patients with clinical features of Saethre-Chotzen syndrome. Strikingly, all these patients were severely mentally retarded, which is otherwise a rare finding in Saethre-Chotzen syndrome. The authors report a patient with a large TWIST/7p deletion but with normal development. Furthermore, craniosynostosis was not present at birth or at the age of 4 months. However, skull radiographs taken at the age of 14 months showed stenosis of both coronal sutures, as well as of part of the sagittal suture. Reports on postnatal onset of craniosynostosis have been made in Crouzon syndrome but, to the authors' knowledge, never in Saethre-Chotzen syndrome.

Acrocephalosyndactylia↗
PubMed2006

Tracheal cartilaginous sleeve with cricoid cartilage involvement in Pfeiffer syndrome.

Pfeiffer syndrome is one of a group of craniosynostosis syndromes in which rare tracheal anomalies have been described. This group of patients have a poor prognosis, and mortality can be related to airway complications and respiratory distress. We report a case of type II Pfeiffer syndrome with tracheal cartilaginous sleeve and cricoid cartilage involvement. We discuss our strategy for the management of the airway of this patient.

Acrocephalosyndactylia↗
PubMed2006

Respiratory outcome of midface advancement with distraction: a comparison between Le Fort III and frontofacial monobloc.

Upper airway stenosis in patients with faciocraniosynostosis is very common and often severe. Midface advancement, either with a Le Fort III or concomitantly to a monobloc frontofacial advancement, may prevent a tracheotomy or result in its ablation. The amelioration of respiratory function appears to be much better if the midface advancement is combined with distraction osteogenesis, although large studies with long-term follow-up are rare. In this study, we reviewed the respiratory outcome between Le Fort III with distraction and monobloc advancement with distraction in 54 faciocraniosynostotic patients. Early respiratory results of both procedures were very good and stable at long-term follow-up. The choice between a Le Fort III and a monobloc procedure is made on the basis of presenting morphology, previous surgery, and age. Both can be expected to give a long-lasting improvement of upper airway obstruction.

Acrocephalosyndactylia↗