1/168. Vaginal atresia and bardet-biedl syndrome association: a component or a distinct entity?bardet-biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism. Recently, renal anomalies also are mentioned among the cardinal signs. Although association of genital anomalies among affected boys are well known, the association of vaginal atresia and other structural genital anomalies are not mentioned among the less-common manifestations of bardet-biedl syndrome in girls. Two girls with bardet-biedl syndrome presented with hematometrocolpos in the preadolescent period and vaginal atresia was diagnosed. After surgical treatment and extended hospitalization, uncontrolled sepsis resulted in progressive renal failure and death of both patients. Vaginal atresia is often delayed or missed in the early childhood period. In girls with bardet-biedl syndrome, vaginal atresia or other structural genital anomalies should be evaluated more systematically during the initial diagnosis of the syndrome. In infancy, the evaluation of a child with vaginal atresia also should include the differential diagnosis of bardet-biedl syndrome. Vaginal atresia may either form a component of the syndrome, or girls who present with vaginal atresia in addition to other components of bardet-biedl syndrome might form a distinct entity.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
2/168. association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report.We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.- - - - - - - - - - ranking = 241.65148969816keywords = hypoventilation (Clic here for more details about this article) |
3/168. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. bardet-biedl syndrome (BBS) is the generic name for a genetically heterogeneous group of autosomal recessive disorders characterised by retinal dystrophy or retinitis pigmentosa (appearing usually between 10 and 20 years of age), postaxial polydactyly, obesity, nephropathy, and mental disturbances, or, occasionally, mental retardation. Typically, MKKS is diagnosed (and reported) in very young children, whereas the diagnosis of BBS often is delayed to the teenage years. We report here a series of nine patients diagnosed in infancy with MKKS because of the presence of vaginal atresia and postaxial polydactyly, who later developed obesity and retinal dystrophy, thus turning out to be instances of BBS. The overlap of BBS and MKKS is a real diagnostic pitfall and its importance has to be stressed, for genetic counselling, for clinical management and follow up, and for molecular approaches. The diagnosis of MKKS should be considered with caution in all published cases described exclusively in the neonatal period and in those with mental retardation. We strongly recommend all children seen in infancy with a diagnosis of MKKS to be re-evaluated for RP and other signs of BBS.- - - - - - - - - - ranking = 2keywords = obesity (Clic here for more details about this article) |
4/168. The Camera-Marugo-Cohen syndrome: report of two new patients.This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.- - - - - - - - - - ranking = 2keywords = obesity (Clic here for more details about this article) |
5/168. Cohen syndrome: two new cases in siblings.Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. We describe the similarities in the clinical and developmental profile of two siblings with Cohen syndrome, providing evidence for autosomal recessive inheritance in this condition. CONCLUSION: The diagnosis of Cohen syndrome should be suspected in mentally retarded children with the above characteristics. neutropenia and ocular anomalies with high-grade myopia and chorioretinal dystrophy are also considered important findings and can aid in the clinical diagnosis especially at an early age.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
6/168. Syndrome of psychomotor retardation, bulbous nose, and epilepsy (Hernandez syndrome): a Brazilian case.A new case of Hernandez syndrome is described in a 16-year-old Brazilian girl. The syndrome consists mainly of psychomotor retardation, epilepsy, a bulbous nose and obesity.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
7/168. Borjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.Borjeson-Forssman-Lehmann (BFL) syndrome is an X-linked recessive disorder characterized by minor facial anomalies, obesity, epilepsy, and severe mental retardation. The phenotype of male patients is usually severe, whereas that of carriers is less severe, suggesting X-linked incompletely recessive inheritance. A recent linkage study mapped the BFL syndrome gene to Xq26-q27. The etiology of the condition in female patients with full manifestations is not known, although nonrandom X-chromosome inactivation has been considered. We recently developed an assay for X-inactivation studies based on the methylation-specific polymerase chain reaction (PCR) technique. Using the methylation-specific PCR assay, a woman with typical findings of this syndrome was shown to have an extremely skewed X-inactivation pattern. This finding suggests that the full manifestations of the BFL syndrome in carriers may be caused by skewed X inactivation with a high proportion of cells in which the x chromosome with a normal gene be inactivated, leaving the x chromosome with a mutant gene active.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
8/168. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome.Idiopathic central hypoventilation has occasionally been reported in previously well children after infancy. The relationship between this late-onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventilation syndrome (CCHS) has not been established. Both CCHS and LO-CHS have been associated with neural crest tumors, such as ganglioneuroblastoma and ganglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies. We report on a case of LO-CHS/HD successfully treated by nasal intermittent positive pressure ventilation (NIPPV). Despite the commonalties with CCHS, we propose that LO-CHS/HD is a distinct clinical syndrome. In addition to the markedly different age at presentation, features of hypothalamic dysfunction are not seen in CCHS. review of the literature was undertaken to further clarify the full spectrum of the disease.- - - - - - - - - - ranking = 921.24640310369keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
9/168. A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large north carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of dna analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic dna markers spanning the x chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum lod score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
10/168. Cutis verticis gyrata of the scalp in a patient with autosomal dominant insulin resistance syndrome.Cutis verticis gyrata (CVG) is a rare disorder; it is characterized by thickening of the scalp which becomes raised to form ridges and furrows resembling the cerebral gyri. We report a case of CVG associated with the autosomal dominant insulin resistance syndrome. This syndrome is characterized by obesity, mild mental retardation, delayed puberty, acanthosis nigricans and hyperinsulinaemia. The association of CVG and autosomal dominant insulin resistance has not been previously described.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
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