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PubMed1977

Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations.

A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature. Although craniosynostosis is either lacking or relatively mild in the members of this family, their features are otherwise strikingly similar to those of patients with the Saethre-Chotzen syndrome. We believe the findings in this family indicate that the Saethre-Chotzen syndrome comprises a broad pattern of carniofacial and other skeletal malformations in which craniosynostosis may sometimes occur.

Acrocephalosyndactylia↗
PubMed1985

Hydrocephalus and mental retardation in craniosynostosis.

We prospectively studied craniosynostosis, regardless of neurologic status, by cranial computed tomography or psychometric testing in 56 children. None of the 27 children with simple craniosynostosis (single or multiple suture involvement) had evidence of hydrocephalus on CT scan. Of the 24 patients with simple craniosynostosis who underwent psychometric testing, 17 were of average intelligence; six were in the low average range. The single mentally retarded child had a history of severe perinatal asphyxia. Hydrocephalus occurred more frequently (five of 23 cases) in children with complex craniosynostosis syndromes, including Pfeiffer syndrome, Crouzon syndrome, and kleeblattschädel deformity. More striking than hydrocephalus, however, was the finding of dysmorphic ventricular dilation in eight patients, including the three children with Apert syndrome and four with Crouzon syndrome. Nineteen of the 25 children with complex craniosynostosis syndromes receiving psychometric testing were of normal intelligence. Four children with borderline normal intelligence had either hydrocephalus or ventricular dilation. The two children with mental retardation were sisters with Crouzon syndrome whose family included other retarded individuals. This study indicates that the incidence of hydrocephalus and mental retardation in craniosynostosis is lower than reported previously.

Acrocephalosyndactylia↗
PubMed2001

Postmenarchal development of chylous ascites in acrocephalosyndactyly with congenital lymphatic dysplasia.

BACKGROUND: Acrocephalosyndactyly is a syndrome characterized by congenital malformation of the skull with craniosynostosis, midface hypoplasia, and symmetrical webbed fusion of the fingers and toes. We describe a possible pathophysiologic mechanism for chylous ascites that developed several months after menarche in a woman with acrocephalosyndactyly and congenital lymphatic dysplasia. CASE: A 25-year-old nulligravid woman with acrocephalosyndactyly, at 18 months after menarche, developed persistent abdominal distension at age 18 years. Laparoscopy at age 25 years revealed chylous ascites with marked chronic peritoneal inflammation, and lymphatic dysplasia with lymphocysts. With hormone manipulation, the chylous ascites fluctuated. CONCLUSION: After menarche in a woman with acrocephalosyndactyly, ovarian steroid hormones might have increased lymph production and hydrostatic pressure, causing rupture of congenitally dysplastic lymph vessels resulting in chylous ascites.

Acrocephalosyndactylia↗
PubMed2000

Syndromes involving craniosynostosis and midface hypoplasia.

This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's, Crouzon's, Saethre-Chotzen, and Carpenter's. Clinical characteristics and genetic defects are discussed. A general approach to surgical management is outlined.

Acrocephalosyndactylia↗
PubMed1982

Apert's syndrome--a report of five cases.

This report presents five cases of Apert's syndrome with features of acrocephaly, characteristic face and complete syndactyly of the hand and foot with bony fusion. Three cases out of five showed preaxial polydactylies of the foot, considered to be one of the characteristic features of Carpenter's syndrome. In the remaining two cases, the first digital ray of the foot was broad and deformed. In addition one case had a postaxial polydactyly of the hand. Three cases showed severe deformity of the shoulder; two had dysplasia and one had synchondrosis of the glenohumeral joint. On the basis of our findings in this, we feel that there is much phenotypic overlap between Apert's and Carpenter's syndrome. A polydactylous presentation of the hand and foot can be found in not a few cases of Apert's syndrome and it is not always an exclusive feature of Carpenter's syndrome.

Acrocephalosyndactylia↗
PubMed1998

Interleukin pattern of Apert fibroblasts in vitro.

The phenotype of cultured fibroblasts from patients affected by Apert's syndrome, a rare connective disorder, differs from that of normal cells in its extracellular matrix macromolecule composition (glycosaminoglycans, collagens and fibronectin) and is further modulated by treatment with interleukins (ILs). As the mechanisms responsible for the changes are unknown, we used our recently described model system for Apert periosteal fibroblasts to ascertain whether the pattern of ILs they secrete into the medium is comparable to that of normal fibroblasts. The results obtained by enzyme-linked immunosorbent assay (ELISA) show that the levels of interleukin-1 (IL-1) and interleukin-6 (IL-6) were lower in Apert than in normal media, whereas levels of IL-1 receptor antagonist (IL-1ra), the natural inhibitor of IL-1, were markedly higher. IL-1 specific bio-activity on thymocyte proliferation was also decreased in Apert supernatants. As we provided also evidence that active transforming growth factor beta (TGFbeta1), an IL-1 antagonist, was not secreted in greater amount in Apert media with respect to normals, the enhancement of IL-1ra appeared critical in down-regulating IL-1. Northern blot analysis of cytokine mRNA revealed no detectable IL-1 or IL-6 gene expression in normal fibroblasts, but high amounts of IL-6 mRNA transcripts in Apert cells. As the increased IL-6 gene expression did not translate into a parallel increase of secreted IL-6, the control of IL-6 secretion may be mainly post-transcriptional. Furthermore, the result that a treatment of the cultures with IL-1ra was able to induce a decrease of IL-6 secretion, suggests that the observed decreased secretion of IL-6 may be due to the autocrine action of overproduction of IL-1ra. The observed imbalance in the production of ILs which we show for the first time suggests ILs may be the natural autocrine regulators of ECM production in Apert fibroblasts. We hypothesize that in vitro differences previously reported in fibroblast phenotypes and several clinical features of Apert's syndrome may correlate with different cytokine patterns.

Acrocephalosyndactylia↗
PubMed1998

Functional treatment of craniosynostoses during childhood.

The aim of this article was to present a treatment strategy for complex craniosynostoses, such as Apert syndrome and Crouzon's disease, based on the author's experience of over 16 years. The most favourable results of primary decompression have been achieved by the radical osteoclastic procedure described by Powiertowski. Subsequent frontal advancement and Le Fort III osteotomy are necessary in these patients when they reach 6-10 years of age. Orthopaedic treatment with a Delaire mask should be started immediately after the operation to achieve optimal growth of the skull base with anterior rotation of the maxilla and posterior rotation of the mandible, which leads to a much better result.

Acrocephalosyndactylia↗
PubMed1996

Classification of hand anomalies in Apert's syndrome.

The literature states that all patients with Apert's syndrome should have complex (osseous) syndactyly of the index, middle and ring fingers. We describe a case of Apert's syndrome with simple syndactyly and recommend extending the classification of hand anomalies in Apert's syndrome.

Acrocephalosyndactylia↗
PubMed1996

Finger duplication in Apert's syndrome.

Three cases of unilateral duplication of the little finger in children with Apert's syndrome are presented. They provide additional evidence that the hands in Apert's syndrome are not always symmetrically affected.

Acrocephalosyndactylia↗
PubMed1989

Effect of Le Fort III osteotomy on mandibular growth in patients with Crouzon and Apert syndromes.

Midface advancement by Le Fort III osteotomy is a common procedure in craniofacial surgery. However, little data exist concerning the effect of midface advancement on mandibular growth. This is a retrospective study of 38 patients from two craniofacial centers who had Le Fort III osteotomy. The aims of this investigation were to document the size and shape of the mandible in Crouzon and Apert syndromes and to determine the effect on these parameters of downward and forward movement of the midface. The syndrome patients had increased gonial angle, increased MP-SN, increased ramus height, and increased ratio of ramus height to body length when compared with normal standards. Patients operated during growth and those operated when growth was completed had similar mandibular size and shape indicating that Le Fort III osteotomy had no measurable effect on these parameters. Inclination of the mandible to the anterior cranial base was increased by the operation and remained unchanged during the follow-up period. The results of this study indicate that the size and morphology of the mandible are similar in Crouzon and Apert syndromes. The pattern of growth is more vertical in the syndrome patients than in normals. Le Fort III osteotomy in growing children does not result in altered mandibular size and shape despite backward rotation of the mandible as a result of midface advancement.

Acrocephalosyndactylia↗