Taxonomic implications of reproductive mechanisms of Hyphomicrobium-facies and Pedomicrobium-facies of a pleomorphic budding bacterium.
Explore the source record for details and available documents.
Bacteria↗
SEARCH · PubMed Health
Results for “Facies”
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
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↗
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↗
Familial asymmetric crying facies. Its occurrence secondary to hypoplasia of the anguli oris depressor muscles.
Asymmetric crying facies is a common neonatal problem with multiple causes. Asymmetric crying facies occurred in a newborn, secondary to familial hypoplasia of the anguli oris depressor muscle. The differential diagnosis of asymmetric crying facies should include this genetic cause.
Adult↗
[Examination of the extension of the osseous facies lunata. A functional study (author's transl)].
In 30 human acetabula the osseous facies lunata was examined and measured. It was found that the acetabular notch is inclined ventrally against the vertical line for an amount of 18,3 degrees (mean value). It was further found that the widest region of the facies lunata is not situated in the acetabular roof (which is usually visible in X-ray photographs), but about 15 degrees in front of it. The outer margin of the osseous acetabulum corresponds to a parallel of latitude of 11,5 degrees, that means that it is situated distinctly above the equator. The cornu anterius is always narrower than the cornu posterius; the similarity between the sockets examined was so great, that a division into different types did not seem to be necessary and an "average acetabulum" was calculated. The width of the facies lunata is interpreted as an equivalent for the amount of stress brought upon; now and then existing indentations of subdivisions of the joint surface are correspondingly understood as places of reduced stress.
Acetabulum↗
The elfin facies syndrome.
The elfin facies syndrome is characterized by idiopathic infantile hypercalcemia; mental retardation; cardiovascular anomalies, usually supravalvular aortic stenosis and peripheral pulmonary artery stenosis; a peculiar elfin facies and oral anomalies, primarily enamel hypoplasia and oligodontia. The dental features found in the three cases reported include enamel hypoplasia, severe dental decay, oligodontia, pulp stones, microdontia, and abnormally small roots. Some consistent cephalometric abnormalities were thought to contribute to the unusual facial appearance of these patients.
Anodontia↗
The Williams elfin facies syndrome. A new perspective.
Evaluation of 19 patients with the Williams elfin facies syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that "infantile hypercalcemia, peculiar facies, supravalvular aortic stenosis" designation which was heretofore used is inappropriate. Only 32% of the patients have evidence of supravalvular aortic stenosis and not one of them has had documented hypercalcemia, including eight patients who had a serum calcium determination in the first year of life. Rather, the most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, a depressed nasal bridge with anteverted nares, and thick lips. The disorder is a sporadic occurrence of unknown etiology.
Adolescent↗
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.
Child, Preschool↗
Femoral hypoplasia-unusual facies syndrome: autopsy findings in an unusual case.
Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities, bilateral talipes equinovarus, and an unusual facies consisting of low-set ears with soft cartilage of the helix, up-slanting palpebral fissures, shortened nose, blunt alae nasi, elongated philtrum, and a thin upper lip. Inferiorly placed kidneys and a septated urinary bladder have also been reported, along with cardiovascular and gastrointestinal abnormalities such as esophageal reflux. The cause and pathogenesis are believed to be multifactorial and probably not inherited. We report the case of a newborn infant with visceral abnormalities not previously recognized in this complex: polysplenia, superiorly placed adrenals at the muscular diaphragms, a single pelvic kidney located in the uterosacral ligament, and anorectal agenesis with the colon ending in a blind pouch above the uterus.
Abnormalities, Multiple↗
Asymmetric crying facies: the cardiofacial syndrome.
A 5 1/2 month old female child presented with cyanosis and recurrent respiratory infection. Asymmetric facies was noticed on crying. On investigation an ostium secundum atrial septal defect with right partial anomalous pulmonary venous connection and severe pulmonary hypertension was detected. The association of asymmetric crying facies with congenital cardiac anomalies, known as cardiofacial syndrome, is presented here to highlight the use of this clinical sign as a marker to congenital anomalies.
Cyanosis↗
Williams (Elfin Facies) syndrome: review of the literature and report of a rare case.
Williams (Elfin Facies) syndrome is a rare, devastating, sporadic disorder first described in 1961. Approximately 100 cases have been reported in the literature. The disorder is characterized by multiple anomalies including mental deficiency, an unusual (elfin) facies, supravalvular aortic stenosis, prenatal and postnatal growth deficiency, infantile hypercalcemia, a small mandible, and frequent dental problems. Because of these anomalies, the dentist contributes significantly to the successful management of these patients. Infant dental care, nutrition counseling, and restorative care are extremely important for maximizing the quality of life for patients with Williams syndrome. A review of the literature and the successful management of a patient with Williams syndrome are presented.
Abnormalities, Multiple↗
[Sex linked mental deficiency, unusual facies, macroorchidism and fragile site on chromosome X (author's transl)].
The association of mental deficiency, macroorchidism, and a fragile site on chromosome X [fra (X)(q28) is reported in a 13-year-old boy who also exhibits a peculiar facies reminescent of trisomy 8. This particular facies is considered part of the clinical syndrome associated with the fra(X)(q28). The fra(X)(q28) was not found in the mother nor in two normal sibs of the propositus. The significance of the marker is discussed in view of two hypotheses, close linkage between pathological gene(s) and the fra(X)(q28) and faulty transcription of the gene(s) beyond the tra(X)(q28).
Adolescent↗
Bartter syndrome. Typical facies and normal plasma volume.
Two girls with hypokalemic and hypochloremic metabolic alkalosis and failure to thrive were found to have Bartter syndrome at ages 9 and 6 months. Both had normal blood pressures despite substantial elevation of plasma renin activity and evidence of secondary hyperaldosteronism. A similarity in facial features, including prominent forhead, a large head, triangular facies with drooping mouth, and large eyes and pinnae, was noted in these two infants and in published pictures of other infants with the syndrome. Although the normotension associated with substanital elevation of plasma renin activity and hyperaldosteronism in Bartter syndrome has been considered the effect of hypovolemia, a normal or slightly elevated plasma volume was found in these infants, suggesting that in certain cases an alternate mechanism for the depressed response to renin may be present.
Bartter Syndrome↗
A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.
A complex balanced three-break-point rearrangement between chromosome 2 and chromosome 7 and a balanced reciprocal translocation between chromosome 5 and chromosome 20, were found associated in a girl and in her mother and grandmother. All three of them have microcephaly, low stature, peculiar asymmetric facies and slight mental retardation. We postulate that one (or more) of the five chromosome break-points disrupted one (or more) gene, leading to the expression of the syndrome and to its segregation with the chromosome rearrangement in three generation. Our finding confirms the efficiency of balanced translocations for gene mapping, althought it has led only to the exclusion mapping of all chromosomes except 2, 5, 7 and 20.
Abnormalities, Multiple↗
Caudal dysplasia and femoral hypoplasia-unusual facies syndrome: different manifestations of the same disorder?
The Caudal Dysplasia syndrome and the Femoral Hypoplasia-Unusual Facies syndrome have been reported to be more frequent among infants of diabetic mothers. We report a newborn girl who presented with features compatible with both syndromes. The possibility that both conditions represent different manifestations of the same disorder is discussed.
Cauda Equina↗
Femoral hypoplasia-unusual facies syndrome, from another viewpoint.
A female infant with the "femoral hypoplasia-unusual facies" syndrome is presented. Most of the findings observed in this child have also been described in the "caudal regression syndrome". The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.
Abnormalities, Multiple↗
Multiple bladder diverticula in Williams "Elfin-Facies" syndrome.
Twenty-three children with Williams "elfin-facies" syndrome were reviewed. A striking incidence of multiple bladder diverticula was found (8 children of 14 who had voiding cystourethrograms). The diverticula were usually not identifiable on excretory urography. Children generally have a low incidence of bladder diverticula (excluding "Hutch" diverticula), especially multiple diverticula; thus one should strongly consider the diagnosis of Williams syndrome and other connective tissue diseases when multiple bladder diverticula are identified.
Abnormalities, Multiple↗
Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.
Among 30 children with hepatic ductular hypoplasia and normal extrahepatic bile ducts, 15 formed a hemogeneous, readily recognizable group. In addition to chronic cholestasis, they have characteristic facies, a mesosystolic murmur, vertebral arch defects, growth retardation, mental retardation, and hypogonadism. Typical biochemical and histologic features aid in differentiation of this group from patients with other varieties of biliary disease.
Abnormalities, Multiple↗