[Discoid facies (moonlike facies of May and Mozziconacci); clinical and hormonal correlation of the discoid facies with largeness of the hips and shoulders].
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Facial Expression↗
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[Burden of proof in medical cases--presumption of fact and prima facie evidence. II. Presumption of fact and prima facie evidence].
The aim of this paper was to present the main rules concerning the burden of proof in polish civil trials, including medical cases. The standard rules were presented with all the important exclusions such as presumption of law and fact or prima facie evidence. The author analyses the effect of these institutions on burden of proof in medical cases. The difference between presumptions of fact and prima facie evidence was analysed and explained. This paper also describes the importance of the res ipsa loquitur rule in United Kingdom and USA. This paper includes numerous High Court sentences on evidential and medical issues.
Expert Testimony↗
Taxonomic implications of reproductive mechanisms of Hyphomicrobium-facies and Pedomicrobium-facies of a pleomorphic budding bacterium.
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Bacteria↗
The discoid facies (lunar facies of May and Mozziconacci) and the neuro-psychic correlates of rhizomegalo-discoid status.
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Humans↗
[Form and measurements of the gyri and sulci of the facies superolateralis and facies inferior hemispherii].
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Cerebral Cortex↗
Depositional facies and aqueous-solid geochemistry of travertine-depositing hot springs (Angel Terrace, Mammoth Hot Springs, Yellowstone National Park, U.S.A.).
Petrographic and geochemical analyses of travertine-depositing hot springs at Angel Terrace, Mammoth Hot Springs, Yellowstone National Park, have been used to define five depositional facies along the spring drainage system. Spring waters are expelled in the vent facies at 71 to 73 degrees C and precipitate mounded travertine composed of aragonite needle botryoids. The apron and channel facies (43-72 degrees C) is floored by hollow tubes composed of aragonite needle botryoids that encrust sulfide-oxidizing Aquificales bacteria. The travertine of the pond facies (30-62 degrees C) varies in composition from aragonite needle shrubs formed at higher temperatures to ridged networks of calcite and aragonite at lower temperatures. Calcite "ice sheets", calcified bubbles, and aggregates of aragonite needles ("fuzzy dumbbells") precipitate at the air-water interface and settle to pond floors. The proximal-slope facies (28-54 degrees C), which forms the margins of terracette pools, is composed of arcuate aragonite needle shrubs that create small microterracettes on the steep slope face. Finally, the distal-slope facies (28-30 degrees C) is composed of calcite spherules and calcite "feather" crystals. Despite the presence of abundant microbial mat communities and their observed role in providing substrates for mineralization, the compositions of spring-water and travertine predominantly reflect abiotic physical and chemical processes. Vigorous CO2 degassing causes a +2 unit increase in spring water pH, as well as Rayleigh-type covariations between the concentration of dissolved inorganic carbon and corresponding delta 13C. Travertine delta 13C and delta 18O are nearly equivalent to aragonite and calcite equilibrium values calculated from spring water in the higher-temperature (approximately 50-73 degrees C) depositional facies. Conversely, travertine precipitating in the lower-temperature (< approximately 50 degrees C) depositional facies exhibits delta 13C and delta 18O values that are as much as 4% less than predicted equilibrium values. This isotopic shift may record microbial respiration as well as downstream transport of travertine crystals. Despite the production of H2S and the abundance of sulfide oxidizing microbes, preliminary delta 34S data do not uniquely define the microbial metabolic pathways present in the spring system. This suggests that the high extent of CO2 degassing and large open-system solute reservoir in these thermal systems overwhelm biological controls on travertine crystal chemistry.
Calcium Carbonate↗
Intrahepatic "cholestasis facies": is it specific for Alagille syndrome?
In 1975 Alagille described in the English literature a syndromatic form of intrahepatic biliary hypoplasia associated with characteristic facial features (prominent forehead, deep-set eyes, mild hypertelorism, straight nose, and small pointed chin). To test the specificity of the facies for Alagille syndrome, close-up facial photographs of 15 children and young adults with various forms of intrahepatic cholestasis (including seven with Alagille syndrome) were examined by 13 pediatric hepatologists from the United States and Canada and by Dr. Alagille and eight of his co-workers from France, without knowledge of the individual diagnoses. Each examiner was asked to identify the patients with facies characteristic for Alagille syndrome. Fifty-one percent of the U.S./Canadian group's matchings and 49% of the French group's matchings of facies to underlying liver disease (presence or absence of Alagille syndrome) were incorrect. The sensitivity of the facies for diagnosing Alagille syndrome was 54% and 32%, the specificity 44% and 68%, and the predictive value 46% and 47% based on the U.S./Canadian and French groups, respectively. "Cholestasis facies" does not appear specific for Alagille syndrome; rather, it seems to be a general feature of congenital intrahepatic cholestatic liver disease.
Adolescent↗
Facial features in Alagille syndrome: specific or cholestasis facies?
Alagille syndrome is a complex multisystem disorder characterized by bile duct paucity, cholestasis, cardiac defects, vertebral anomalies, ophthalmologic changes, and facial dysmorphism. Although the facial features are highly conserved in affected individuals both within and between families, the possibility has been raised that cholestasis is the causative factor for the facies. In this study, the diagnostic specificity of the facies in Alagille syndrome has been evaluated by asking clinical dysmorphologists to examine a photographic panel of 18 pediatric and adult individuals with Alagille syndrome and other forms of congenital intrahepatic cholestasis. The examiners had no knowledge of the actual diagnoses. The group was able to distinguish correctly between Alagille and non-Alagille individuals with a frequency of 79%. Professional grade of the respondent did not affect the accuracy of correct identification. The adult facial features were the most difficult to evaluate successfully. The sensitivity of facies identification to diagnose Alagille syndrome was 76%, the specificity 82%, the positive predictive value 81%, and the negative predictive value 77%. These results suggest that the facies seen in Alagille syndrome is specific to this condition and its recognition is a valuable tool in diagnosis.
Alagille Syndrome↗
Elevated plasma 1,25-dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies.
We measured plasma concentrations of 1,25-dihydroxyvitamin D (1,25-(OH)2D) in the course of a 6-to-37-month survey of four children with hypercalcemia and an elfin facies (Williams syndrome). Levels of 1,25-(OH)2D were elevated (160 to 470 pg per milliliter) during the hypercalcemic phase of the disease, when the children were five to nine months old, and they decreased thereafter. Plasma 1,25 (OH)2D levels were higher than those found in three children (16 to 60 months old) with the elfin facies syndrome and no hypercalcemia (42 to 71 pg per milliliter) and eight children (1 to 36 months old) with hypercalcemia and no dysmorphy (12 to 140 pg per milliliter), including two children with vitamin D intoxication. Hypercalcemia in the three children with elfin facies was controlled by a low-calcium diet. Serum calcium levels fell to the normal range, and plasma 1,25-(OH)2D levels were normal for age (18 to 105 pg per milliliter) at 14 to 47 months of age, even after appropriate therapy had been discontinued. These observations suggest that hypercalcemia may be the consequence of abnormal synthesis or degradation of 1,25-(OH)2D in children with the elfin facies syndrome.
Calcitriol↗
Associated anomalies in asymmetric crying facies and 22q11 deletion.
Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies. A large number of asymmetric crying facies cases with chromosome 22q11 microdeletions have presently been reported. Fluorescence in situ hybridization (FISH) analysis for 22q11 deletion was performed on 8 infants with asymmetric crying facies. Five of our patients had at least one associated systemic anomaly. Two of 5 patients had conotruncal heart disease (Cayler cardiofacial syndrome). In three of the affected infants, we failed to reveal additional congenital malformation. The 22q11 deletion was present in only one patient. This baby had congenital hypoparathyroidism, severe neonatal hypocalcaemia and tetralogy of Fallot. We suggest, a 22q11 deletion should be excluded not in all cases but in cases with Cayler cardiofacial syndrome and in ACF associated with additional congenital anomalies.
Abnormalities, Multiple↗
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion.
Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia and a variable deletion on chromosome 22q11. The deletion within chromosme region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome. We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of Fallot. Genetic confirmation of chromosome 22q11 deletion was made.
Chromosome Deletion↗
Anencephaly with holoprosencephalic facies due to ring chromosome 18.
An anencephalic infant with holoprosencephalic facies and ring chromosome 18 [r(18)] is reported with review of the pertinent literature. Although the association of anencephaly and holoprosencephalic facies is well established, this is the first instance of an accompanying karyotypic abnormality. Review of other r(18) cases suggests that this is not a coincidental finding. Karyotype analysis appears warranted in cases of anencephaly with holoprosencephalic facies.
Anencephaly↗
Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.
An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.
Abnormalities, Multiple↗
In defence of moral imperialism: four equal and universal prima facie principles.
Raanan Gillon is a noted defender of the four principles approach to healthcare ethics. His general position has always been that these principles are to be considered to be both universal and prima facie in nature. In recent work, however, he has made two claims that seem to present difficulties for this view. His first claim is that one of these four principles, respect for autonomy, has a special position in relation to the others: he holds that it is first among equals. We argue that this claim makes little sense if the principles are to retain their prima facie nature. His second claim is that cultural variation can play an independent normative role in the construction of our moral judgments. This, he argues, enables us to occupy a middle ground between what he sees as the twin pitfalls of moral relativism and (what he calls) moral imperialism. We argue that there is no such middle ground, and while Gillon ultimately seems committed to relativism, it is some form of moral imperialism (in the form of moral objectivism) that will provide the only satisfactory construal of the four principles as prima facie universal moral principles.
Beneficence↗
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia.
Abnormalities, Multiple↗
Congenital asymmetrical crying facies.
Congenital asymmetrical crying facies, a minor congenital anomaly due to hypoplasia or the absence of the depressor muscle of the angle of the mouth (musculus depressor anguli oris), manifests as lower lip asymmetry during crying. In a prospective study of 1,600 neonates born at the J.L.N. Medical College in Ajmer, India, during the period from January 1979 to August 1979, 10 infants (6.3 per 1,000 infants) had asymmetrical crying facies. Two of the 10 affected neonates had congenital heart disease (1 ventricular septal defect; 1 tetralogy of Fallot), compared with three out of 1,590 members of a control group (p < 0.001). Five babies had other minor congenital malformations. Four of the 10 mothers of probands and three of twelve siblings had the same anomaly, suggesting a familial etiologic factor. No noxious obstetric or prenatal factor could be identified. At a follow-up examination (3 to 6 months later), all of the infants showed normal growth and development, although the effects of the anomaly persisted. We suggest that asymmetrical crying facies is a commonly occurring minor congenital malformation, and in its presence, a thorough search for other congenital malformations, especially of the cardiovascular system, should be made.
Abnormalities, Multiple↗
Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.
Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf Harofeh Medical Center, Israel, during 12 months (January to December 1998), 17 infants (an incidence of 0.31%) had asymmetric crying facies. One of the affected infants had ventricular septal defect and another infant had VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) syndrome. No noxious obstetric perinatal factors could be identified. Family history was unremarkable in all cases. Diagnostic work-up performed in all of the affected infants failed to reveal an additional congenital malformation. Asymmetric crying facies is a minor isolated finding in most of the cases; however, a thorough search for other congenital malformations, especially of the cardiovascular system, should be performed.
Crying↗
Asymmetric crying facies associated with hemihypertrophy: report of one case.
An infant whose face appears symmetrical at rest yet whose mouth is pulled downward to one side when crying is said to have an "asymmetric crying facies". The cause of the facial asymmetry in this disorder is congenital absence or hypoplasia of the depressor anguli oris muscle at the corner of the mouth. Associations of this minor facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and, rarely, the central nervous system. In this article, a 40-day-old boy with asymmetric crying facies associated with malformed right ear, patent foramen ovale, hemivertebrae, thoracic scoliosis, and hemihypertrophy is presented. The last anomaly has not previously been published in association with asymmetric crying facies in the literature according to our knowledge.
Abnormalities, Multiple↗