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PubMedDate not supplied

Early operation in craniofacial dysostosis.

Craniofacial dysostosis is encountered in different congenital malformations such as Kleeblattschädel deformity, Crouzon's disease, and Apert's, Chotzen's, Pfeiffer's, and Carpenter's syndromes. Premature closure of cranial and facial sutures leads to characteristic disfigurement of the skull with orbital and maxillary hypoplasia. Operative treatment should be performed as early in life as possible to prevent further functional and esthetic deficiencies, and psychosocial problems. Correction is done by an intracranial approach with mobilization, remodeling, and advancement of the deformed skull. Thirty-two children have been operated during the first year of life with a maximum follow-up of 8 years. Most favorable results were obtained in 28 cases. The rate of complications were lower than in a series of children operated on later in life. We advocate that complex 1-stage corrections of craniofacial syndromes may be safely carried out during infancy utilizing modern techniques, expert pediatric anesthesia, and postoperative intensive care.

Child, Preschool↗
PubMed1995

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.

Crouzon craniofacial dysostosis (CFD) is an autosomal dominant form of craniosynostosis characterized by an abnormal skull shape, with hypertelorism, prominent eyes and midfacial retrusion. Recently, a gene for CFD has been mapped to chromosome 10q25-q26 and mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene have been identified. Here, we report the mapping of a CFD gene to chromosome 10q by close linkage to probe AFMa197wb1 at locus D10 S1483 in six unrelated families of French ancestry (Zmax = 4.69 at theta = 0) and provide additional evidence of genetic homogeneity of this condition. In addition, we report a novel mutation in exon B of the FGFR2 gene (Cys 342 Trp) in familial CFD and describe recurrent mutations at codon 342 as a particularly frequent event in CFD. Since mutations in the extracellular domain of the FGFR2 gene are observed in a few clinically distinct craniosynostosis syndromes (CFD, Jackson-Weiss, Apert and Pfeiffer), the present study gives support to the variable clinical expression of FGFR2 mutations in humans.

Chromosome Mapping↗
PubMed1996

Craniofacial dysostosis: airway obstruction and craniofacial surgery.

Craniofacial surgery in craniofacial dysostosis on airway obstruction was studied retrospectively in a consecutive series of patients. The records of 76 patients were reviewed, 27 with Apert syndrome, 47 with Crouzon's syndrome, and two with Pfieffer's syndrome. Of 172 operations, 148 were done for cosmetic reasons, hydrocephalus, or papillary oedema, and 24 were done for airway distress. Forty patients (23%) were children less than 13 years of age, and 22 underwent midface advancement procedures. Only 13 of these operations had been done for airway distress. Two were cured by operation and seven improved. After operation had failed to relieve the airway obstruction, a nasal continuous positive airway pressure device (nCPAP) was fitted to seven patients. The nCPAP relieved or improved airway obstruction recorded by a sleep study. As midface advancement in childhood rarely results in lasting improvement in breathing or aesthetics, it may well be advisable to postpone operation until the early teens. We conclude that with nCPAP operation can in most cases be deferred until a time when a permanent result can be achieved.

Airway Obstruction↗
PubMed2000

The craniofacial dysostosis syndromes: current surgical thinking and future directions.

Craniofacial dysostosis is the term applied to familial forms of craniosynostosis in which the sutural involvement generally includes the cranial vault, cranial base, and midfacial skeletal structures. The syndromic forms of craniofacial dysostosis were initially described by Carpenter, Apert, Crouzon, Saethre and Chotzen, Pfeiffer, and others. In addition to the dysmorphic cranial features, affected individuals may have profound alterations in facial skeletal development. Surgical reconstruction requires thoughtfully sequenced and staged procedures with consideration for the individual's specific malformations, craniofacial growth patterns, and psychosocial needs. Management of the craniofacial dysostosis syndromes is surgical, but the indications and the timing, type, and effectiveness of each stage of reconstruction have not been well evaluated and remains as much an art as a science. This article reviews the specific characteristic clinical features of the craniofacial dysostosis syndromes and presents current philosophy and rationale for the staging of reconstruction.

Craniofacial Dysostosis↗
PubMed1983

Frontofacial advancement with bony separation in craniofacial dysostosis.

A new technique in craniofacial surgery to separate the cranial and nasal cavities from each other is described. This can be achieved by preserving the complete anterior cranial fossa while simultaneously correcting the forehead, orbit, and face in craniofacial dysostosis. With this procedure, the risk of infection deriving from nasal sinuses and cavities should be minimized.

Acrocephalosyndactylia↗
PubMed2000

Surgical management of V-pattern strabismus and oblique dysfunction in craniofacial dysostosis.

INTRODUCTION: Strabismus affects as many as 60% to 70% of patients with craniofacial dysostosis. V-pattern strabismus with severe oblique muscle dysfunction is the most common ocular motility problem seen and can be difficult to manage. Few studies have reported on the results of strabismus surgery in this condition. METHODS: We retrospectively reviewed the surgical management and outcomes of 14 patients with craniofacial dysostosis who underwent 16 operations to determine the optimal surgical procedure and to report on extraocular muscle anomalies noted at the time of surgery. Operations performed included medial rectus muscle infraplacement (n = 2), inferior oblique (IO) recession (n = 3), IO myectomy (n = 3), IO anterior transposition (n = 3), and IO denervation/extirpation (n = 5). RESULTS: All patients had significant residual ocular motility dysfunction postoperatively. No beneficial effect was noted after IO anterior transposition or after medial rectus muscle infraplacement. Modest improvement of the V-pattern and oblique muscle dysfunction was noted after denervation/extirpation and myectomy of the IO muscle. Bilateral absent or anomalous superior oblique tendons were noted in 8 of 9 patients in whom the superior oblique tendon was examined at surgery. CONCLUSIONS: Strabismus in craniofacial dysostosis is complex and difficult to cure with surgery. Denervation/extirpation and myectomy of the IO muscle offered modest benefits, though neither procedure resulted in normalization of ocular motility. Agenesis of the superior oblique tendon may be causally related in a large proportion of affected patients.

Adolescent↗
PubMed1980

Variations in extraocular muscle number and structure in craniofacial dysostosis.

Five of 12 patients with craniofacial dysostosis who needed strabismus surgery had anomalies of extraocular muscle structure and number. Two cul-de-sac incisions per eye are sufficient to investigate all muscles for anomalies and add little time or risk to the planned strabismus procedure. The origin of these anomalies and their frequency in craniofacial stenosis are unknown.

Adolescent↗
PubMed1995

The detection and management of intracranial hypertension after initial suture release and decompression for craniofacial dysostosis syndromes.

We performed a retrospective study of 107 consecutive patients with syndromic forms of craniosynostosis (craniofacial dysostosis) seen by the craniofacial team at the Hospital for Sick Children between 1986 and 1992. There were 51 patients with Crouzon's syndrome, 33 with Apert's syndrome, 8 with Pfeiffer syndrome, 11 with Saethre-Chotzen syndrome, and 4 with kleeblättschadel anomaly. Six patients developed raised intracranial pressure (ICP) after initial suture release and decompression (Apert's syndrome, three patients; Pfeiffer syndrome, one patient; Saethre-Chotzen syndrome, two patients). Raised ICP was considered in those children who returned with a bulging fontanelle, progressive frontal bone protrusion, intermittent headaches, irritability, and vomiting. The diagnosis of raised ICP was based on papilledema (four patients), progressive macrocephaly (one patient), and ICP monitoring (one patient). No child in this group had hydrocephalus requiring cerebrospinal fluid diversion. Once raised ICP was detected in these children, a second operation was immediately performed to reduce the ICP with the intention of expanding the volume of the cranial cavity. The second procedures included: anterior cranial vault and upper orbital reshaping (four patients), posterior cranial vault reshaping (one patient), and total cranial vault reshaping (one patient). There were no perioperative complications in these patients, although one patient showed subsequent recurrence of raised ICP requiring further cranial vault re-expansion. At follow-up, ranging from 3 to 7 years, all six patients were asymptomatic without evidence of raised ICP. In our series, raised ICP occurred in 6% of the children with a craniofacial dysostosis syndrome after initial suture release and decompression.(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗
PubMedDate not supplied

Sonographic appearance of craniofacial dysostosis in utero.

Crouzon's syndrome, or craniofacial dysostosis, is a rare congenital abnormality which may be associated with life-threatening conditions, such as congenital heart defects. The effects of the premature synostosis and some of the facial abnormalities can be detected antenatally with ultrasound and thus provide the paediatrician with a useful 'early warning system'.

Adult↗
PubMed1994

A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10.

Crouzon craniofacial dysostosis (CFD) is an autosomal dominant craniofacial disorder characterized by premature craniosynostosis, shallow orbits and hypoplastic maxilla. To map the gene responsible, we have used a mapping strategy of testing for linkage to known developmental genes. Analysis of a large kindred established linkage between CFD and three loci (D10S190, D10S209 and D10S216) that span a 13 cM region on chromosome 10q. A maximum pairwise lod score of 4.42 (theta = 0) at D10S190 was obtained and the addition of a second kindred produced a combined pairwise lod score of 5.32 (theta = 0) at the same locus. The developmental gene, PAX2, located within this region, is an attractive candidate gene.

Chromosome Mapping↗
PubMed1988

Strabismus in craniofacial dysostosis.

Ten infants and children who presented with craniofacial dysostosis are discussed; four had Apert's syndrome, four had Crouzon's syndrome, one had Pfeiffer's syndrome, and one had hypertelorism. The follow-up of the patients ranged from 3 months to 7 years, with an average of 19 months. Patients had bifrontal and biparietal craniectomies to correct frontal and temporal orbital retrusion, while two had left unilateral procedures only. One patient (T.S.) had had three similar procedures before he was 3 years old and patient B.B. had two before he was 11 months old due to the complete failure of bony orbital growth. Before the cranial surgery, one patient had a preexisting esotropia with bilateral congenital sixth nerve paresis, one had a V-pattern exotropia, and one had a right intermittent hypotropia due to right superior rectus weakness. In no case was there a change in the ocular alignment after infantile craniectomy. There were assorted ophthalmologic anomalies, such as congenital bilateral sixth nerve paresis, absent superior rectus function, bilateral ptosis in addition to absent superior rectus function, and two patients presented with frank and repeated exorbitism.

Child, Preschool↗
PubMed1976

Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".

We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendents. The condition has been designated craniofacial dyssynostosis.

Abnormalities, Multiple↗
PubMed1990

The operative treatment of isolated craniofacial dysostosis (plagiocephaly): a comparison of the unilateral and bilateral techniques.

Both the safety and efficacy of the treatment of isolated craniofacial dysostosis (plagiocephaly) in infancy have been demonstrated. Opinions remain divided, however, as to the optimal type of procedure to be undertaken. In an attempt to answer this question, we have retrospectively evaluated a study population of 48 children operated on in infancy by either a unilateral or bilateral approach. Results of treatment at a minimal follow-up of 3 years were assessed based on preoperative and postoperative photographs and direct patient examination. Based on this retrospective comparison of the unilateral and bilateral approaches to the treatment of isolated craniofacial dysostosis, we conclude that (1) either approach as specifically outlined will give excellent results in the majority of patients, (2) there is no statistically significant difference in the results obtained by using either procedure, (3) in the majority of instances, less than ideal correction was manifested by contour irregularities evident in the temporal and/or lateral forehead region, and strict attention should be given to these areas in an attempt to further improve results, and (4) in those cases where significant protrusion is observed on the "normal side," a bilateral approach is preferable.

Bone Transplantation↗
PubMed1976

Craniofacial dysostosis with syringomyelia and associated anomalies.

A 16-year old boy had craniofacial dysostosis, hydrocephalus, and syringomyelia. Other anomalies included platybasia, a Klippel-Feil anomaly, webbed toes, and a cutaneous hemangioma. Evaluation included cerebral angiography, ventriculography, and myelography.

Abnormalities, Multiple↗
PubMed1996

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13. These deletions are located between the centromere and D11S914 in a region of approximately 20cM. The present study confirms the presence of a multiple exostoses gene on chromosome 11p. Furthermore, it suggests that the gene for isolated foramina parietalie permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region.

Abnormalities, Multiple↗
PubMed1977

Early surgery for isolated craniofacial dysostosis. Improvement and possible prevention of increasing deformity.

We describe our experiences with craniofacial surgery at less than 9 months of age in 8 patients with isolated craniofacial dysostosis. We believe that the early release (preferably before the age of 6 months) of the constricting forces in bound or underdeveloped areas of bone will allow subsequent better development of these faces. The molding and expansile influences of the rapidly developing brain and eyes can exert a greater effect on facial growth. The operations are easier and more rapidly performed than those in older children, and no distant bone grafts are necessary.

Age Factors↗