1/218. Mutchinick syndrome in a Japanese girl.We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern europe.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
2/218. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 32.66529198053keywords = connective (Clic here for more details about this article) |
3/218. Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. The ribs consisted of cartilage anteriorly, with only a small amount of fibrous tissue present laterally and posteriorly. The second fetus (12 weeks gestation) had agnathia, with a large U-shaped defect in the soft palate. There was moderate postnuchal edema. The ribs were unossified and there were gaps in the cartilage where primitive mesenchyme was present posteriorly and laterally. These findings are consistent with a severe form of cerebro-costo-mandibular syndrome. The early fetal histopathology of both cases suggests a possible mechanism by which the characteristic "rib gaps" of cerebro-costo-mandibular syndrome may develop, with evidence for abnormal function of a gene or genes involved in regulation of rib chondrogenesis.- - - - - - - - - - ranking = 2keywords = soft (Clic here for more details about this article) |
4/218. Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?We report a Brazilian girl, born to normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, grey matter heterotopia, and mental retardation. The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). Other differential diagnoses are discussed.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
5/218. Aortic root dilation in apparent Lujan-Fryns syndrome.We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered.- - - - - - - - - - ranking = 32.66529198053keywords = connective (Clic here for more details about this article) |
6/218. Two-year follow-up of distraction osteogenesis: its effect on mandibular ramus height in hemifacial microsomia.Distraction osteogenesis has been used to lengthen the mandible in patients with hemifacial microsomia. Questions regarding soft tissue and skeletal growth after distraction osteogenesis have not been clearly elucidated in the literature. In this case report, a 2-year follow-up of distraction osteogenesis in a 7 year old boy is documented with lateral and posterior/anterior cephalometric analysis. The analysis was performed preoperatively and at specific postsurgical periods to evaluate the facial soft tissue and skeletal growth patterns. Objective analysis of this growing patient after distraction osteogenesis clearly demonstrates that the anteroposterior elongation of the mandible is relatively stable, whereas the vertical lengthening and soft tissue effects are minimal. Critical evaluation of other patients who have undergone distraction osteogenesis is needed to determine if this was an isolated incident or the expected result in similar patients.- - - - - - - - - - ranking = 3keywords = soft (Clic here for more details about this article) |
7/218. weill-marchesani syndrome in three generations.BACKGROUND: weill-marchesani syndrome is a rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia and glaucoma. methods: We report 6 patients with weill-marchesani syndrome (with or without ocular involvement) in three generations, identified by screening 26 members of two families. This is the largest family in the literature showing an autosomal dominant pattern of inheritance. RESULTS: Presenile vitreous liquefaction was present in all the younger cases. weill-marchesani syndrome was full-blown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were present. To our knowledge this is the first report regarding asymmetrical axial length and glaucomatous damage, and presenile vitreous liquefaction in weill-marchesani syndrome with or without ocular involvement. CONCLUSIONS: The longer axial length might be the precursor of impending severe glaucomatous damage. Presenile vitreous liquefaction in subtle young cases should alert the physician to the diagnosis of weill-marchesani syndrome on screening of the family members.- - - - - - - - - - ranking = 32.66529198053keywords = connective (Clic here for more details about this article) |
8/218. Arterial tortuosity syndrome.We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
9/218. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
10/218. focal nodular hyperplasia of the liver associated with portal vein agenesis: a morphological and immunohistochemical study of one case and review of the literature.Congenital absence of portal vein (CAPV) is a rare malformation. To our knowledge, sixteen cases are reported in western literature. All the cases are associated with other diseases, cardiac malformations (12/17 patients; 16 plus the present case) and hepatic neoplasms being the most frequent observations. We present the case of a girl with a complex malformative syndrome consisting of multicystic kidney dysplasia, CAPV and nodular tumor-like mass of the liver. angiography showed that the splenic vein and superior mesenteric vein joined to form a common trunk directly entering the inferior vena cava above the liver. A review of the CAPV cases of the literature and the clinical and pathological features of the hepatic lesion, classified as focal nodular hyperplasia (FNH), are extensively discussed.- - - - - - - - - - ranking = 0.30394366592321keywords = neoplasm (Clic here for more details about this article) |
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