1/13. A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/13. Sirenomelia in an identical twin: a case report.Sirenomelia, or the mermaid syndrome, is the most extreme example of the caudal regression syndrome. It invariably presents with lower limb fusion, sacral and pelvic bony anomalies, absent external genitalia, anal imperforation, and renal agenesis or dysgenesis. Because of the resultant oligohydramnios, these infants most often have Potter's facies and pulmonary hypoplasia. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. It has been suggested that the association of the most extreme form of caudal regression, sirenomelia, with monozygotic twinning may represent developmental arrest of the primitive streak, with creation of a second primitive streak that gives rise to the usually normal twin. The embryology of the various presentations of the caudal regression syndrome may be further delineated by studying infants with this dramatic and fatal syndrome.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
3/13. Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia.Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features include prenatal and postnatal asymmetric growth deficiency, triangular and/or asymmetric facies, micrognathia, finger and/or toe syndactyly, clinodactyly, single transverse palmar creases, male genital anomalies, hypotonia and psychomotor retardation. This disorder is underdiagnosed because in 70% of cases the triploid cell line is only seen in fibroblasts. In cases in which a triploid cell line is found in lymphocytes, it usually occurs in less than 5% of cells. While some reports of diploid/triploid mosaicism have mentioned unusual skin pigmentary patterns, including hypomelanosis of Ito, it was only recently recognized that this is a helpful diagnostic clue in mosaic chromosome disorders. We report monozygotic twin girls with diploid/triploid mosaicism whose cutaneous pigmentary dysplasia led to their diagnosis.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
4/13. Microcephalic osteodysplastic dwarfism (type II-like) in siblings.We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
5/13. Extramembranous pregnancy in twin gestation.An ususual case of extramembranous development of 1 infant in a twin pregnancy is described. The pregnancy was associated with the intermittent loss of liquor and a bloody discharge starting at the 26th week of gestation. Spontaneous delivery occurred at the 32nd week of gestation; the first infant was delivered by vertex and the second by breech presentation. The first infant was normal, but the second infant, who died shortly after delivery, had most of the external features of dysplasia renofacialis. (Potter facies). The gestation was diamniotic, dichorionic, and with a single placenta, but the side of the affected twin was markedly circumvallate, with short, thick membranes that covered no more than 10% of the infant.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
6/13. Possible teratogenicity of sulphasalazine.Three infants, born of two mothers with inflammatory bowel disease who received treatment with sulphasalazine throughout pregnancy, were found to have major congenital anomalies. In the singleton pregnancy, the mother had ulcerative colitis, and the infant, a male, had coarctation of the aorta and a ventricular septal defect. In the twin pregnancy, the mother had Crohn's disease. The first twin, a female, had a left Potter-type IIa polycystic kidney and a rudimentary left uterine cornu. The second twin, a male, had some features of Potter's facies, hypoplastic lungs, absent kidneys and ureters, and talipes equinovarus. Despite reports to the contrary, it is suggested that sulphasalazine may be teratogenic.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
7/13. Pericentric X inversion in dizygotic twins who differ in x chromosome inactivation and menstrual cycle function.A 21-year-old female dizygotic twin was referred for cytogenetic evaluation because of mild mental retardation. Significant history, clinical, and physical findings included irregular menses, mildly coarse facies, and microcornea. Chromosome analysis revealed a pericentric inversion of the X chromosome, 46, X, inv (X)(p11;q22). Her twin who is phenotypically normal was also found to carry the same inversion. The twins differ significantly in x chromosome inactivation and menstrual cycle function.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
8/13. Autosomal recessive type of whistling face syndrome in twins.A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an "H"-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
9/13. Cytoarchitectonic anomalies in a genetically based disorder: williams syndrome.We report on cytoarchitectonic neocortical findings in a patient with williams syndrome (WS), a rare genetic disorder resulting in characteristic facies, heart defect, other connective tissue anomalies, and a unique neurobehavioral profile. Cytoarchitectonic anomalies include exaggerated horizontal organization of neurons within layers, most striking in area 17; increased cell packing density throughout brain regions; abnormally clustered and oriented neurons. overall, posterior forebrain areas were markedly diminished in volume. The results suggest that brain anomalies may relate to the extreme visuospatial deficit in WS, the dysregulation of apoptotic cell death, and the genetic basis of WS, a hemizygous deletion including the elastin locus on chromosome 7. This case provides opportunities for linking brain findings to cognitive deficits and their genetic underpinnings.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
10/13. barth syndrome: clinical observations and genetic linkage studies.barth syndrome is an X-linked recessive condition characterized by skeletal myopathy, cardiomyopathy, proportionate short stature, and recurrent neutropenia, but with normal cognitive function. Some, but not all patients, exhibit carnitine deficiency and/or the presence of 3-methylglutaconic and ethylhydracylic acids in urine. Recently the mutation causing barth syndrome was localised to the Xq28 region by linkage analysis. We report 6 cases of barth syndrome from 4 families and highlight the fact that neuromuscular and cardiovascular symptoms and the severity of infections tend to improve with age, while short stature persists. Also previously unreported was myopathic facies and nasal quality to speech in our cases. The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings. We propose that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain.- - - - - - - - - - ranking = 0.25keywords = facies (Clic here for more details about this article) |
| | Next -> |