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PubMedDate not supplied

Analysis of intracranial volume in apert syndrome genotypes.

OBJECTIVE: Apert syndrome is caused by a mutation of the fibroblastic growth factor type 2 gene and in nearly all of the cases where the mutation has been identified it occurs in one of two adjacent sites of the gene, either position 252 or position 253. There is currently uncertainty whether a worse neurosurgical outcome occurs in association with a particular genotype. We investigated whether there were clinically subtle (but relevant) morphological differences in the craniofacial skeleton, which would result in differences in the intracranial volume, which might account for apparent differences in surgical outcome. METHOD: Three-dimensional CT scans of pre-operative Apert syndrome whose genotype had been identified had the intracranial volume measured using the Cavalieri estimator with correction for partial voluming effects. The values were compared to age and sex normals and then the two genotypes compared. RESULTS: Intracranial volumes were measured for 22 cases, 16 with the 252 mutation and 6 with the 253 mutation. CONCLUSIONS: All cases except two had greater than their sex- and age-adjusted mean normal intracranial volumes. For the 252 and 253 genotypes there were no discernible differences in intracranial volumes between the two genotypes.

Acrocephalosyndactylia↗
PubMedDate not supplied

Prenatal diagnosis of cloverleaf skull: watch the hands!

Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal cloverleaf skull deformity. Three types have been described, each with a different prognosis. This case report stresses the need to thoroughly analyze the fetus and particularly the fetal hands in case of prenatal observation of a cloverleaf skull. The discovery of characteristic hand abnormalities allowed the early prenatal detection of type 2 Pfeiffer syndrome in our patient.

Abnormalities, Multiple↗
PubMed2006

Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.

OBJECTIVE: To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. CASE AND METHODS: A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of hydrocephalus. Ultrasonography of the fetus showed cloverleaf skull with dilated lateral ventricles, exophthalmos, macroglossia, and a single ventricle of the heart in addition to polyhydramnios. MR imaging was performed at 30 weeks of gestation and revealed cloverleaf skull, dilated lateral ventricles, and broad thumb. Fetal karyotyping indicated 46,XY, but DNA sequence analysis showed a single sequence variation (Nt 1198A>G) in the fibroblast growth factor receptor (FGFR) 2 gene (exon 10). On the basis of these findings, the baby was diagnosed in utero with Pfeiffer syndrome type II. Following counseling, the pregnancy was terminated because polyhydramnios made the patient's symptoms more severe. The patient delivered her baby vaginally at 34 weeks of gestation. The baby's birth weight was 2,298 g; the baby was declared dead at 25 min after birth. CONCLUSION: The detailed findings obtained by a combination of ultrasound that included three-dimensional and MR imaging and confirmation sought via molecular testing led to an accurate diagnosis of Pfeiffer syndrome type II in utero.

Acrocephalosyndactylia↗
PubMedDate not supplied

Hydrocephalus in Apert syndrome: a retrospective review.

A retrospective evaluation was carried out to define the incidence of hydrocephalus and associated factors in 44 patients with Apert syndrome treated at The Hospital for Sick Children in Toronto over a 22-year period. Forty-three of these patients underwent cranioorbital decompressive procedures within 1 year of birth. Fifteen of 25 (60%) patients who had either a computed tomography scan or pneumoencephalogram had ventriculomegaly, and 3 of the 25 (12%) had associated brain anomalies. Ten of the 44 (23%) patients had cerebrospinal fluid (CSF) shunts placed, 7 lumboperitoneal and 3 ventriculoperitoneal. Six of the shunts were placed early after cranioorbital procedures (CSF leaks in 5 cases and a subgaleal fluid collection in 1 case). The average IQ of 15 patients evaluated by the Wechsler Intelligence Scale was 72.5, indicative of significant intellectual impairment. There was no correlation between IQ and ventricular size. Although hydrocephalus characterized by progressive ventricular dilatation is uncommon in Apert syndrome, postoperative problems related to impaired CSF circulation are common and may indicate an underlying CSF absorptive deficit.

Acrocephalosyndactylia↗
PubMed1996

Congenital cervical spinal fusion: a study in Apert syndrome.

The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly type 1). Radiological evidence of vertebral fusion either in progress or completed was observed in 37 (63%) of the cases. Fusion was limited to a single vertebral level in 18 cases and multiple levels, involving either contiguous or skipped levels in the remaining 19+ C3-4 and C5-6 were the levels most commonly involved. This distribution of fusions is different from other instances of congenital spinal fusion including those associated with other varieties of craniosynostosis. There was a significant association between age at the time of radiograph and the presence of spinal fusions (p < 0.001, Wilcoxon 2-sample test). Analysis of sequential radiographs in 17 patients revealed evidence of progressive fusion in 10. Small size of the vertebral body and reduced intervertebral disc space were indicators of subsequent bony fusion. The fusions seen in Apert syndrome thus appear to be progressive, occurring at the site of subtle congenital vertebral anomalies and may not be apparent as a congenital feature. The implications for the aetiology of so-called "congenital' spinal fusions in Apert syndrome and other situations are discussed.

Acrocephalosyndactylia↗
PubMed1997

Consequences of cranial vault expansion surgery for craniosynostosis.

Remodelling the cranial vault in an attempt to increase the intracranial volume and thus control intracranial hypertension, whilst at the same time improving the patient's appearance, has been the mainstay of surgery for syndromic craniosynostosis. We report a case of craniosynostosis in whom cranial vault expansion was followed by the development of hind-brain herniation and hydrocephalus. This prompted a review of our other cases of craniosynostosis who had been evaluated by magnetic resonance imaging following surgery in order to assess the frequency of hind-brain herniation and hydrocephalus in these children. Magnetic resonance imaging had been performed in the postoperative evaluation of 34 cases of craniosynostosis who had undergone procedures intended to increase the intracranial volume. The position of the cerebellar tonsils and the presence or otherwise of hydrocephalus was recorded for all cases. The effectiveness of surgery in treating raised intracranial pressure (ICP) was evaluated by means of postoperative ICP monitoring and had been performed in 22 cases. Herniation of the hind-brain below the level of the foramen magnum was observed in 18 cases (53%). Hydrocephalus, requiring the insertion of a ventriculoperitoneal shunt, was present in 14 cases (41%) and had developed after the cranial vault procedure in 9. The mean sleeping ICP measured postoperatively was normal (<10 mm Hg) in 5, borderline (10-15) in 7, and raised (>15 mm Hg) in 10 cases. Cranial vault expansion in complex craniosynostosis may fail to address the underlying aetiology of intracranial hypertension. Furthermore, both hydrocephalus and hind-brain herniation may develop following such surgery. Neither the increase in intracranial volume afforded by cranial vault expansion nor the shunting of hydrocephalus precludes the persistence of abnormal ICP. These findings are discussed in the light of possible mechanisms, in addition to cephalocranial disproportion responsible for intracranial hypertension in complex craniosynostosis. The implications for the surgical management of complex craniosynostosis are reviewed.

Acrocephalosyndactylia↗
PubMed1988

Craniofacial growth in apert syndrome as measured by finite-element scaling analysis.

A new tool for the study of biological form change is applied in a comparison of craniofacial growth in normal children and those affected with Apert syndrome. Using finite-element scaling analysis, the magnitude of size change during postnatal growth in the Apert sample was determined to be generally less than normal, and the magnitude of shape change was generally greater than normal. No consistent, statistically significant, alteration from normal growth was defined in the Apert sample, however. There appears to be no consistent effect on general cell and tissue proliferation in Apert syndrome. Rather, specific subpopulations of cells and tissues may be affected differentially over time.

Acrocephalosyndactylia↗
PubMed1995

The genetic background of craniosynostosis syndromes.

Craniosynostosis syndromes are developmental disorders that cause an abnormal shape of the skull due to the premature fusion of cranial sutures. Enormous progress has been made recently in understanding the genetic background of these disorders and a classification of syndromes on a genetic basis is beginning to emerge. Members of at least three gene families that play an important role in vertebrate development are associated with different craniosynostosis syndromes. Here we review the genetic aspects of this fast-moving field.

Acrocephalosyndactylia↗
PubMed2001

Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome.

The Saethre-Chotzen syndrome is characterized by premature fusion of cranial sutures resulting from mutations in Twist, a basic helix-loop-helix (bHLH) transcription factor. We have identified Twist target genes using human mutant calvaria osteoblastic cells from a child with Saethre-Chotzen syndrome with a Twist mutation that introduces a stop codon upstream of the bHLH domain. We observed that Twist mRNA and protein levels were reduced in mutant cells and that the Twist mutation increased cell growth in mutant osteoblasts compared with control cells. The mutation also caused increased alkaline phosphatase and type I collagen expression independently of cell growth. During in vitro osteogenesis, Twist mutant cells showed increased ability to form alkaline phosphatase-positive bone-like nodular structures associated with increased type I collagen expression. Mutant cells also showed increased collagen synthesis and matrix production when cultured in aggregates, as well as an increased capacity to form a collagenous matrix in vivo when transplanted into nude mice. In contrast, Twist mutant osteoblasts displayed a cell-autonomous reduction of osteocalcin mRNA expression in basal conditions and during osteogenesis. The data show that genetic deletion of Twist causing reduced Twist dosage increases cell growth, collagen expression, and osteogenic capability, but inhibits osteocalcin gene expression. This provides one mechanism that may contribute to the premature cranial ossification induced by deletion of the bHLH Twist domain in Saethre-Chotzen syndrome.

Acrocephalosyndactylia↗
PubMedDate not supplied

Acrocephalosyndactly (Apert's syndrome): Temporal bone findings.

The middle ear and ossicular chain were not complete in the specimen, but the remnants present appeared normally developed except for the stapediovestibular joint region. The annular ligament was incompletely developed in two areas where fixation by undedifferentiated cartilage occurred. The subarcuate fossa, normally filled with fibrous tissue and usually narrowed by a rim of newly deposited periosteal bone at birth, was unusually large. Included in this fibrous tissue were remnants of the primary cartilaginous capusule undergoing absorption, as well as islands of partially removed endochondral bone. The abnormalities in both instances indicated a disturbance in maturation or resorption of the embryonal cartilaginous capsule.

Abnormalities, Multiple↗
PubMed1986

Congenital conductive hearing loss in Apert syndrome.

Acrocephalosyndactyly (Apert syndrome) is a rare craniosynostotic syndrome characterized by acrocephaly, syndactyly of the hands and feet, and--occasionally--conductive hearing loss. We report three cases of conductive hearing loss in Apert syndrome. One patient was found to have bilateral stapes fixation. His daughter (the second case) had chronic bilateral otitis media with effusion. The third case involved a fixed incus and hypomobile stapes. The management of these patients and a review of the literature are presented.

Acrocephalosyndactylia↗
PubMed2006

Severe dehydration and acute renal failure associated with external ventricular drainage of cerebrospinal fluid in children.

We report three paediatric cases of severe dehydration and hyponatraemia with circulatory compromise associated with the use of external ventricular drainage of cerebrospinal fluid. Two of the children had cardiac arrests. All were successfully resuscitated. While there were additional factors that contributed to other fluid losses, and fluid balance data are incomplete, these cases highlight a need for increased vigilance when managing children with external ventricular drains.

Acrocephalosyndactylia↗
PubMed2006

Pfeiffer syndrome.

Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

Acrocephalosyndactylia↗
PubMed1985

Modified prone position for cranial remodeling procedures in children with craniofacial dysmorphism: a technical note.

A new head position for use during operation on young children with cranial deformities is described. The position allows exposure of the entire calvarium from the supraorbital ridges to the posterior rim of the foramen magnum. It is a modification of the conventional prone position involving hyperextension of the neck. The authors have safely used this position to perform one-stage radical cranial remodeling procedures that previously required two stages. The advantages of this position and the methods for achieving it are discussed.

Acrocephalosyndactylia↗
PubMed1985

Hydromyelia complicating Apert's syndrome: a case report.

A 7-year-old boy with Apert's syndrome and hydrocephalus presented with scoliosis and lower extremity weakness. Neuroradiological evaluation demonstrated bony abnormalities involving the foramen magnum and a markedly hydromyelic spinal cord. Clinical improvement followed posterior fossa decompression and a myelotomy on the caudal conus medullaris. A possible role of the craniofacial anomaly in the pathogenesis of the hydromyelia is discussed.

Acrocephalosyndactylia↗