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PubMed1996

[Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].

Apert syndrome, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, facial dysmorphism and severe syndactyly of the hands and feet. Missense mutations at codons 252 and 253 at 5'-end on exon 7 of fibroblast growth factor receptor (FGFR) 2 have been identified in a large number of patients with Apert syndrome. In this study, nucleotide sequences on the intron 6 were determined by vector ligation-PCR and direct sequencing. Five DNA samples from sporadic Apert syndrome were examined by non-RI SSCP and direct sequencing using a primer pair of intron 6 and exon 7. All cases of the syndrome showed abnormal banding pattern in the SSCP and missense mutations from Ser to Trp at codon 252 of the FGFR2 gene. The non-RI SSCP and direct sequencing of the FGFR2 exon 7 from genomic DNAs may be a useful and rapid molecular means for clinical diagnosis of Apert syndrome.

Acrocephalosyndactylia↗
PubMed1996

Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes.

PURPOSE: To analyze the skull and brain malformations in patients with craniofacial syndromes. METHODS: A retrospective analysis of imaging studies of 21 children with craniofacial anomalies (8 with Apert syndrome, 6 with Pfeiffer syndrome, 4 with Crouzon syndrome, 1 with Robert syndrome, 1 with Coffin-Lowry-syndrome, and 1 with Saethre-Chotzen syndrome) was carried out using CT (21 patients), MR imaging (9 patients), and MR venography (2 patients). A series of qualitative and quantitative assessments of the skull base and intracranial structures was performed. RESULTS: Skull base abnormalities were present in all patients. Intracranial abnormalities included ventriculomegaly, frank hydrocephalus, callosal anomalies, hypoplasia/absence of the septum pellucidum, hypoplasia/dysplasia of the hippocampus, dysplasias or distortions of the cerebral cortex, and parenchymal hemorrhage. The anomalies of the corpus callosum, septum pellucidum, and hippocampus appeared primary, whereas the others may have been the result of brain distortion by the calvarial anomaly. MR imaging was more useful than CT for evaluating brain abnormalities. In the two patients in whom it was performed, MR venography showed anomalies of the venous system, indicating that venous anomalies, possibly related to the skull base hypoplasia, may contribute to the intracranial abnormalities. CONCLUSION: A wide range of neuroimaging abnormalities are present in the craniofacial syndromes. Some of these are clearly primary, whereas others appear to be related to the small skull base and sutural synostoses. MR venography may prove useful in defining the cause of some of the associated anomalies.

Acrocephalosyndactylia↗
PubMed1996

Craniosynostosis: novel insights into pathogenesis and treatment.

The identification in craniosynostosis syndromes of mutations in genes belonging to the fibroblast growth factor signalling pathway and the transcriptional regulator MSX2 provides important clues to the pathogenesis of these disorders. Although surgery continues to be the mainstay of treatment, new animal models and improved uncerstanding of cranial suture biology and pathology may lead to complementary therapies.

Acrocephalosyndactylia↗
PubMed1977

Apert's syndrome.

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Acrocephalosyndactylia↗
PubMed1995

[Apert syndrome. Ultrasonic diagnosis, obstetrical management].

We report two observations of antenatal diagnosis of Apert syndrome. This uncommon genetic disorder suggest an autosomal dominant inheritance, but almost all cases described are sporadic; the responsible gene is yet not located. Ultrasonographic detection is difficult, based on the following signs: brachycephalic skull (unusually detected), flat facial profile with a nasal bridge depression, tall appearance of the forehead (inconstant), total bilateral and symmetrical syndactylies of the hands and feet. At last we present our arguments for medical abortion, when this disorder is detected.

Abortion, Therapeutic↗
PubMed1996

Apert syndrome.

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Acrocephalosyndactylia↗
PubMedDate not supplied

The hands in Saethre-Chotzen syndrome.

The hand radiographs of fifteen patients with a diagnosis of Saethre-Chotzen syndrome were reviewed by a radiologist with an interest in skeletal dysplasia along with the craniofacial team. Eleven patients exhibited a range of bone abnormalities of the following sites: thumbs, fingers, metacarpals, and the radius. The epiphysis of the distal phalanx of the thumb was most commonly involved site with 7 of the 15 patients affected. In addition to the structural abnormalities all cases before puberty (14 out of 15 patients in this series) showed variable delay of the bone age.

Acrocephalosyndactylia↗
PubMed1977

Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?

Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, syndactyly, and polydacytly. Although considerable phenotypic overlap exists, these syndromes are considered by most investigators to be the result of different (although possibly allelic) genes. This report describes the clinical and roentgenologic manifestations in a family wit acrocephalosyndactyly (ACS) showing considerably variation in phenotype. Two different types of ACS were clinically identified in this single family. The proband presented with the classic stigmata of Pfeiffer syndrome while her cousin was considered to be a typical case of Apert syndrome. Further family study revealed that, in addition to these two individuals, seven other family members also have unusually shaped heads and have the facial appearance remiscent of Crouzon disease. Hand and foot anomalies were seen clinically in some but not all of these individuals. From the observations made in this family and from previous reports in the literature, we feel that there is a substantial reason to reevaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.

Acrocephalosyndactylia↗
PubMed1977

Computed tomography of abnormally shaped pediatric cranium.

Computed tomography is an important diagnostic procedure in evaluation of the pediatric patient with an abnormal cranial size and (or) shape. Differential diagnosis of cranial abnormalities based on two hundred and thirty-one computed tomograms is presented. It allows accurate assessment of ventricular size, cerebrospinal fluid pathways, brain substance, and calvarium. Frequently the abnormality demonstrated is so specific that an etiologic diagnosis is made.

Acrocephalosyndactylia↗
PubMed1997

Prenatal diagnosis of facial malformations.

In a prospective study, 5407 pregnant women were screened by ultrasound to detect malformations of the fetal face. Of a total of 11 facial anomalies, eight were detected by prenatal ultrasound (72 per cent). Three pregnancies were terminated because of associated developmental abnormalities or aneuploidy. In all of them, the facial malformations were correctly diagnosed. When associated with other developmental abnormalities, facial malformations were picked up at a rate of 100 per cent. Isolated facial malformations, by contrast, were detected in no more than 50 per cent of cases. Eight cases with suspected facial dysmorphism ended with the delivery of normal babies (specificity 99.8 per cent). None of them prompted karyotyping or any other invasive testing. Only two correctly detected facial malformations (bilateral cleft lips/palate) had a minor influence on obstetrical management. There would not have been disadvantages for the newborns in any of the cases if the malformations had been missed.

Acrocephalosyndactylia↗
PubMed1996

[Apert syndrome].

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Acrocephalosyndactylia↗
PubMed1996

Monobloc and facial bipartition osteotomies: a step-by-step description of the surgical technique.

The surgical management of upper and midface deformities in the craniofacial dysostosis syndromes has evolved gradually. Staged surgical procedures performed at intervals to coincide with facial growth, visceral function, and psychosocial development represent the current approach. The lack of consensus on timing and techniques for the management of the complex upper and midface deformities reflects not only uncertainty about the results achieved with any one approach to treatment but also confusion about how to perform the intricate and technically sensitive procedures. The purpose of this article is to provide the surgeon with a step-by-step technical description of the monobloc and facial bipartition osteotomies as I routinely perform them. By understanding the details for their safe execution, craniofacial surgeons are able to maintain these reconstructive options as active components in their armamentarium.

Acrocephalosyndactylia↗
PubMed1996

Apert's syndrome: cephalometric evaluation and considerations on pathogenesis.

Apert's syndrome is a malformation characterized by abnormalities in the cranial vault, midfacial malformations, and syndactylia. The present study analyzes the lateral and frontal projections of the teleradiograms from five patients. Data were taken on the skeletal features and an attempt was made to interpret them in terms of functional matrices. We have used cephalometry as a descriptive device although the intent was also to use it to provide a perspective on the pathogenetic data derived from the literature. The hypothesis analyzed is that from the outset of craniofacial pathogenesis there may be a primitive alteration of the cartilaginous template from which are derived endochondral bones. The progressive involvement of the synchondrosis of the cranial base is subsequently transmitted to the membranous structures of the vault and face through the coronal ring and lambdoid suture systems. Although the data gained do not actually confirm this hypothesis, they do provide further support for it.

Acrocephalosyndactylia↗
PubMed1996

Apert's syndrome: modification in corrective techniques.

While the osteotomy techniques for craniofacial synostosis treatment are well-known and frequently used, the resolution of the nasal air impairment, ocular prolapse, and retromaxillism relapse remains unsatisfactory. The modification of the osteotomy presented here has the purpose of a new therapeutic trial.

Acrocephalosyndactylia↗