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PubMedDate not supplied

Synostosis of the ring-small finger metacarpal in Apert acrosyndactyly hands: incidence and treatment.

SUMMARY: This study reports on the incidence of a synostosis between the ring-small metacarpal bases in patients with Apert syndrome and describes a technique to resect the synostosis and insert silicone sheets to improve hand function. Records of 9 patients (18 hands) were evaluated. Average age at follow-up was 9.5 years. Three relationships between the ring-small metacarpals were observed. Type I hands (22%) had no abnormal interconnections; type II hands (33%) possessed a synostosis since birth; type III hands (44%) did not possess a synostosis at birth, but one later developed at average age of 79 months. Total incidence of synostosis was 77%. Five patients underwent excision of the synostosis. At an average of 16 postoperative months, 4 of these patients experienced improvement in hand prehension. In patients with Apert syndrome, resection of abnormal interconnections between the ring-small metacarpals is highly recommended to improve hand prehension based on the high incidence of a synostosis in this region.

Acrocephalosyndactylia↗
PubMed2001

A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.

Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome.

Acrocephalosyndactylia↗
PubMed1975

Correction of severe facial deformity.

A craniofacial team has been developed to corrdinate the treatment of patients with severe facial deformity and to minimize the surgical risks. Two hundred patients have been evaluated in the last 4 years and more than 100 treated by this team to correct orbital hypertelorism, oxycephaly and plagiocephaly with exophthalmos, features of Crouzon's disease and Apert's and Treacher Collins syndromes, hemifacial microsomia, and severe lower facial deformity and malocclusion. Surgical principles include extensive subperiosteal stripping of bone, osteotomy as necessary, and repositioning maintained by bone grafts. Postoperative evaluation is being maintained for 5 years or to maturity in younger children. Although many of the results are less than perfect, there has been sufficient improvement, especially psychologic and functional, to warrant continuation of the surgical program under closely controlled conditions.

Acrocephalosyndactylia↗
PubMed2001

[Surgical treatment of hand syndactyly in Apert syndrome].

Authors describe 6 cases (3 women, 3 men) affected by Apert syndrome (acrocephalosyndactyly). Clinical material has been documented since 1953. They concentrate on the description of individual clinical cases on the basis of objective and radiograph examination of patients. They describe surgical procedure of syndactyly between the thumb and 2nd-5th digits on both hands. Prior to 1998 they started with separation of digits at the age of 3-5 years. After 1998 they began with it as early as at the age of 3-6 months. For the reconstruction of lateral aspects of separated digits and for the creation of inter-digital space they use "zig-zag" incision and for covering the resulting skin defects they use skin transplants. During separation of 2nd-4th digits they extirpate all phalanges of 3rd digit and they leave metacarpal III in situ by which they create a three-digit hand with a relatively good functional result.

Acrocephalosyndactylia↗
PubMed2001

Echoencephalographic findings of Apert syndrome.

Although Apert syndrome has been characterized in the prenatal period and clinically described in the literature, postnatal echoencephalographic findings have not been reported. We present a case of Apert syndrome that shows bilateral periventricular cysts, unusual posterior downward curving of the lateral ventricles without evidence of hydrocephalus, along with a decreased anterior-posterior diameter of the cranial vault. Given that Apert syndrome, characterized by acrocephalosyndactyly, can give rise to numerous CNS abnormalities, echoencephalography could be used to further characterize Apert syndrome in the postnatal period.

Acrocephalosyndactylia↗
PubMed2002

[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation].

One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascade of signals that influence cell division and differentiation. FGFR2 mutations have been found in the Apert, Crouzon and Pfeiffer craniosynostosis syndromes. Most mutations are gain of function mutations, inducing ligand-independent receptor activation or altered ligand binding. With the exception of Apert syndrome, there is no clear genotype-phenotype correlation. Many different mutations have been found in Pfeiffer and Crouzon syndrome, but all of the mutations occur in the same extracellular region of the receptor. Identical mutations have been found in Pfeiffer and Crouzon syndrome. So within one family, both Crouzon and Pfeiffer syndrome may occur. Mutations in other FGFR-genes have also been found in craniosynostosis syndromes.

Acrocephalosyndactylia↗
PubMed2001

Transcriptional dysregulation in skeletal malformation syndromes.

Normal skeletal development requires coordinated temporal and spatial gene expression patterns that specify the functions of various cell types. Transcription factors by definition coordinate this process and are themselves subject to hierarchical levels of regulation. Together they determine the context-dependent function of each transcription factor. Hence, loss-of-function and gain-of-function mutations within specific transcription factors cause dysregulation of broad transcriptional networks. Consequences are usually dominantly inherited skeletal malformation syndromes that can be broadly viewed as consequences of defects of cellular differentiation, proliferation, and survival versus defects in pattern formation. The study of human phenotypes and mutations can lead to hypotheses about targets within the respective transcriptional network. These targets can then be confirmed by combining mouse genetic and in vitro studies. Although this has been successful in a small group of skeletal dysplasias, the majority of transcriptional networks during skeletogenesis remain to be elucidated.

Acrocephalosyndactylia↗
PubMed2002

[Fetal ventilation and craniomaxillary development].

Data acquired by means of color Doppler ultrasound very explicitly suggest what the role of the fetal ventilation and nasal capsules in the morphogenesis of the maxillary prognathism, turbinates, nasal valves and nasopharynx could be. Furthermore, the dysmorphologies observed in Apert or Crouzon craniosynostosis, achondroplasia or unilateral cleft lip would also testify that the influence of the fetal ventilatory dynamics goes beyond the limits of the face and extends to the cranial base and the cranium. The wealth of raised hypothesis thanks to the contribution of this imaging system could question the validity of some conceptions of the fetal craniomaxillary morphogenesis.

Achondroplasia↗
PubMed1975

The Saethre-Chotzen syndrome.

The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well-documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and "incidental" findings is emphasized.

Abnormalities, Multiple↗
PubMed1975

Roentgencephalometric studies of the premature craniofacial synostoses: report of a family with the Saethre-Chotzen syndrome.

Five affected individuals in 4 generations of a family with acrocephalosyndactyly (McKusick ACS Type III; Saethre-Chotzen syndrome) are reported. Serial roentgencephalometric data obtained pre- and postoperatively on the proband were compared with similar measurements on the affected mother and maternal uncle, both of whom have not had operative corrections, and the proband's unaffected older brother. Similarity in skull form among the affected individuals was demonstrated. Head circumference as an index of cranial growth or intracranial capacity was misleading in assessing the intellectual potential of the affected adults. In contrast, cranial capacity, as measured by the modulus, was found to be more reliable.

Acrocephalosyndactylia↗
PubMed1975

New syndromes of mental retardation.

During a survey of a selected group of residents of an institution for the mentally retarded, four previously undescribed syndromes were found. They were characterized as follows: cerebral maldevelopment, dwarfism and cataracts (autosomal recessive inheritance); cerebral maldevelopment, dwarfism and facial osteoproliferation (autosomal recessive inheritance); cerebral maldevelopment and colobomata (autosomal recessive inheritance); and cerebral maldevelopment and acrocephaly (X-linked recessive inheritance).

Abnormalities, Multiple↗
PubMed1975

Apert syndrome.

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Acrocephalosyndactylia↗