Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ACROCEPHALOSYNDACTYLIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 703 records · Page 39Linked to original sources
PubMed2002

Apert syndrome.

Explore the source record for details and available documents.

Acrocephalosyndactylia↗
PubMedDate not supplied

Pronounced and early acne in Apert's syndrome: a case successfully treated with oral isotretinoin.

An unusual case of widespread acne unresponsive to treatment with early onset in a child with Apert's syndrome is presented. The patient eventually responded to oral isotretinoin therapy. The morphological profile of the sebaceous glands and the expression of proliferative markers and androgen receptors were evaluated in seboblasts and sebocytes using morphological, ultrastructural and immunohistochemical techniques. There were no significant differences in staining for proliferative markers and nuclear expression of androgen receptors in the glands from the patient and four healthy controls. Our results support the view that acne in Apert's syndrome is not sustained by abnormalities of the sebaceous glands demonstrable with conventional morphological techniques, and that it does not depend on an increased expression of androgen receptors.

Acne Vulgaris↗
PubMed1975

Acrocephalosyndactyly and partial trisomy 6.

A partial trisomy of the long arm of chromosome 6 was found in an infant with acrocephalosyndactyly (not Apert acrocephalosyndactyly). The mother had a balanced translocation involving the long arms of chromosomes 6 and 10. Other reports of similar aberrations are reviewed.

Acrocephalosyndactylia↗
PubMed1975

Acrocephalopolysyndactyly, type Noack, in a large kindred.

ACS was highly variable in this family. At least one affected member could have passed as uninvolved. Others could have been assigned to ACS types III, IV or V. The current classification is probably sound, but great caution is needed to assign individual cases of ACS to any group other than ACS types I or II or the Carpenter syndrome. The great variability of ACS has obvious implications for genetic counseling.

Acrocephalosyndactylia↗
PubMed2002

Dentofacial characteristics in Apert syndrome: a case report.

Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.

Acrocephalosyndactylia↗
PubMed2002

Expression profiles of craniosynostosis-derived fibroblasts.

BACKGROUND: Craniosynostosis syndromes, a group of connective disorders characterized by abnormalities in vault osteogenesis and premature fusion of bone sutures, are associated with point mutations in FGF receptor family members. The cellular phenotype is characterized by abnormal extracellular matrix turnover. MATERIAL AND METHODS: We used primary cultures of periosteal fibroblasts derived from two different craniosynostosis syndromes, the Apert and Crouzon syndromes. The FGFR2 third immunoglobulin-like domain and its flanking linker regions were analyzed for mutation. DNA microarrays containing 19,200 cDNAs were used to study the gene expression profiles of Apert and Crouzon fibroblasts. The pathologic cells were compared to wild-type human periosteal fibroblasts. RESULTS: The P253R missense mutation and the G338R mutation were observed in Apert and Crouzon fibroblasts, respectively. The genetic profiles, as evaluated by DNA microarrays, yielded different clusters of expressed sequence tag (ESTs) expression within the experiment. Expression profiles from craniosynostosis-derived fibroblasts differ from those of wild-type fibroblasts (288 human ESTs, p< 0.01, pFDR = 0.12). Furthermore, two ESTs clusters discriminate the Crouzon from Apert fibroblasts. The differentially expressed genes cover a broad range of functional activities, including (1) bone differentiation, (2) cell-cycle regulation, (3) apoptotic stimulation, and (4) signaling transduction, cytoskeleton, and vesicular transport. CONCLUSIONS: The transcriptional program of craniosynostosis fibroblasts differs from that of wild-type fibroblasts. Expression profiles of Crouzon and Apert fibroblasts can also be distinguished by two EST expression clusters, thus hinting at a different genetic background.

Acrocephalosyndactylia↗
PubMedDate not supplied

[The early correction of the hand deformities in Apert's syndrome. A preliminary report].

The correction of cranial and limb malformations of the Apert's syndrome requires efforts of a multidisciplinary team. The esthetic and functional repercussions that this syndrome brings to their carriers are severe and so the treatment should aim tom improve the function of the hands in order to integrate these patients in a more normal social live. In our Service, in the period from 1989 to 1992 five patients carrying this syndrome had their hand correction completed before the age of three years. It was observed that surgery was possible in this early stage with no additional complication rate. Quadrangular flaps for the neocomissure and for the coverage of the fingers were successfully used even with skeletal deviations. There was improvement of the esthetics of the hands, but their function could not be evaluated properly. Anyway, because of complex abnormalities the results will never be perfect. The early treatment of these alterations allows the gain of a better hand function and moreover accelerates the physical and intellectual development of the children.

Acrocephalosyndactylia↗
PubMed1991

[Apert Syndrome--orthopedic aspects and treatment outcome].

Several years follow up of 3 patients aged from 4 to 14 years with acrocephalosyndactyly of Apert Syndrome type is described. Functional evaluation of the hands was performed before the onset and after completion of treatment. Psychological tests run since the beginning of treatment were analyzed. In all cases remarkable improvement of function and shape was achieved, but progressive bony changes within phalanges negatively influence all over results.

Acrocephalosyndactylia↗