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At least 451 records · Page 25Linked to original sources
PubMed1987

Morphology of the human corpus callosum: the shape of its mediosagittal section.

The shape of the corpus callosum was studied on mediosagittal sections of 50 human brains. The terms "facies corticalis" and "facies profunda" are proposed for the sides of corpus callosum. Each of 50 brains had a different shape of callosal mediosagittal section and any available classification was not possible. In 94% of cases, the contour of callosal cortical surface exhibited a posterior depression and in 46% also an anterior one. Other details of callosal morphology influencing its shape on mediosagittal section (transverse folds, circumscribed depressions) were described. The junction of fornix and corpus callosum in 78% was in 3rd and in 14% in 4th quarter of callosal length. The possible significance of these findings for further studies of human brain morphology is discussed.

Adult↗
PubMed1989

[Cayler's cardio-facial syndrome. Apropos of 19 cases].

Hypoplasia of the depressor angulae oris muscle can be detected in the crying newborn by an asymmetry of the facies, and it must be differentiated from facial palsy. Asymmetry of the facies during crying spells associated with a congenital cardiac abnormality constitutes the Cayler's cardiofacial syndrome. Nineteen cases of this syndrome are reported. A wide spectrum of congenital heart defects of varying severity was observed, ventricular septal defect being the most common along with frequent malformations involving systems and organs other than the heart.

Adolescent↗
PubMed1988

[Electrophysiological study of congenital facial paralysis].

The common cause of neonatal facial asymmetry is facial nerve paralysis or "asymmetric crying facies syndrome". In the not uncommon later the lower lip, symmetrical at rest, becomes tilted to the so-called normal side when the patient is smiling or crying, as the congenital hypogenesis of sublabial muscles fail to pull down the lower lip in the opposite side. The electrophysiological differentiation between the two diseases has been performed by orbicularis oculi and oris reflexes with mechanically glabellar and supralabial tapping stimulation, respectively, in addition to needle and/or surface EMG recording. In the facial nerve paralysis of the case 1, R1 and R2 were absent in the orbicularis oculi and oris reflexes. EMG activity was completely lacking over the M. orbicularis oculi and oris innervated by facial nerve. On the contrary, the orbicularis oculi and oris reflexes were normal in the asymmetric crying facial of the case 2. EMG activity was absent only in the sublabial muscles including M. depressor anguli oris and/or M. depressor labii inferioris. Furthermore, needle EMG disclosed no spontaneous activity at rest, which was suggestive of no denervation in the sublabial muscles. It was, however, not possible to determine exactly which muscle the needle was inserted, the M. deprossor anguli oris or the M. depressor labii inferioris. The case 3 might be a variant of asymmetric crying facies with hypogenesis of M. orbicularis oris and/or oculi as well as the sublabial muscle, since the latency was normal but the amplitude was significantly attenuated in the components of orbicularis oculi and oris reflexes.(ABSTRACT TRUNCATED AT 250 WORDS)

Diagnosis, Differential↗
PubMed1986

The natural history and pathogenesis of the cranial coronal ring articulations: implications in understanding the pathogenesis of the Crouzon craniostenotic defects.

The craniostenotic birth defects seen in patients with Crouzon syndrome have prompted this developmental study on the system of articulations between the human frontal, sphenoid, and ethmoid bones. The Crouzon facies, including midfacial hypoplasia and exorbitism, have been linked to the premature synostosis of calvarial sutures. However, considerable evidence shows that midfacial positioning is linked to increasing length of the midline cranial base. Thirty-seven typical-for-age (8 to 29 weeks) embryos were histologically prepared, read serially, and three-dimensionally reconstructed to map the so-called coronal ring articulations that continuously join the frontal, sphenoid, and ethmoid bones. A morphologic staging plan was used to show the progressive development of bones and intervening joints. Data show that a coronal ring exists beginning at 8 weeks. Those portions of the ring separating the frontal and sphenoid bones (within the orbit and laterally along the coronal suture) show the typical structure of a five-layered suture. This sutural component of the ring is C-shaped with a cartilaginous bridge between the optic foramina completing the ring. This is the sphenoethmoidal (S-E) synchondrosis of the midline cranial base. It is suggested that this deeply located cartilage joint is the primary site of pathogenesis in the craniostenotic facies and not the coronal sutures which are operated upon. Even though the S-E cartilage would be difficult and potentially morbid to approach surgically, this study would suggest that preoperative computed tomography (CT) of the skull base with special emphasis on the S-E region may provide a better prognosis regarding midface growth effects after surgery. It appears to be the fused S-E synchondrosis and not necessarily the premature closure of the coronal sutures that may tether the midface posteriorly.

Adult↗
PubMedDate not supplied

Changes in the anterior nasal spine and the alveolar process of the macillae in leprosy a clinical examination.

A brief review is presented of the Danish medieval skeletons with leprosy changes, particularly in the skulls, where the pathologic specific changes found are termed facies leprosa. The clinical aspect of facies leprosa is termed Bergen Syndrome I (nasal leprosy) and Bergen Syndrome II (the leprogenic changes of the alveolar process of the maxilla superior with loosening and/or loss of the frontal incisors). An account is given of the interim result of a clinical examination of 333 inpatients at the Prapradaeng Leprosarium in Bangkok, Thailand. In the group of 258 patients with lepromatous leprosy, 62.4% presented Bergen Syndrome I and 16.3% Bergen Syndrome II. These proportions differ clearly from the corresponding ratio found in the Danish medieval skulls.

Adolescent↗
PubMed1979

[A morphological and functional analysis of the extent of cartilage coverage in the human hip joint].

The extension and the shape of the cartilage surface of 30 human femora and acetabula were measured. The results were considered and discussed as the response of the articular cartilage to the specific stress on this joint. 3 kinds of cartilage distribution were found on the femoral head; these shapes were understood as the consequence of the position and the dwelling time of the actual cartilage stimulating area. The largest extention of the cartilage was found in the ventrolateral direction and the smallest in medial direction. The cartilage margin of the "A" type was regulary curved. The "B" type has an inlet towards the fovea capitis. This inlet reaches in the "C" type to the fovea as an area free of cartilage. The acetabula could not be divided into types with different cartilage distribution because of the great similarity in shape. Therefore we computed an average acetabulum. The largest extension of the facies lunata was found 15 degrees in front of the roof of the acetabulas as seen in x-ray pictures. The cornu anterius is always narrower than the cornu posterius. The outer margin of the osseous acetabulum does not reach the equator, it lies on a latitude of 11.5 degrees. The incisura acetabuli is inclined against the vertical line with 18.3 degrees. The width of the facies lunata can be considered as a result of mechanical stress. The different extensions of the cartilage of both joint components in ventro-lateral direction seems to be the consequence of different extensions of movement. The area of movement of the caput femoris is larger than the area of the acetabulum.

Acetabulum↗
PubMed1984

[Cohen's syndrome in 2 sisters].

A new familial observation of Cohen syndrome in two sisters is reported. Both children exhibited the typical features of Cohen syndrome, i.e. obesity, hypotonia, mental deficiency and a dysmorphic syndrome mainly involving the facies and extremities. More accurate delineation of the nosologic limits of this syndrome is ensured by a critical review of the 17 observations published in the medical literature, which include 9 familial cases: the contribution of subsequent observations to the initial description is pointed out. Attention is drawn to the unusual course of the obesity which typically occurs after five years of age, in contrast to common obesities. Furthermore, Cohen syndrome is remarkable by the morphologic abnormalities, particularly those of the facies, which should suggest the diagnosis. As in our observation, data from the literature is in support of autosomic recessive inheritance which implies restrictive genetic counseling.

Abnormalities, Multiple↗
PubMed1983

Renal anomalies in neonates with spontaneous pneumothorax - incidence and evaluation.

Over a seven year period 23 neonates with spontaneous pneumothorax and/or pneumomediastinum (SPP) were diagnosed in 24,739 live birth infants (0.09 percent). Of these, eight (35 percent) had renal anomalies. Three showed severe renal dysfunction and typical Potter facies and died within 34 hours. Their lungs were shown to be hypoplastic with a reduced lung weight: body weight ratio or a low radial alveolar count. One patient had left hypoplastic and right polycystic kidneys. Four patients with obstructive uropathies did not show the typical facies, and SPP was the only sign leading to their early diagnosis and therapy. We conclude that nephrologic evaluation is indicated in newborns with unexplained SPP and recommend abdominal ultrasound and if indicated renal scan and/or intravenous pyelography as part of the initial evaluation.

Female↗
PubMed1982

Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome.

An asymmetrical crying facies due to hypoplasia or absence of the depressor anguli oris muscle (DAOM) was observed in 23 infants and children. The cases were divided into two groups. Group 1 consisted of 12 patients who had associated cardiac abnormalities. In group 2 were 11 patients who either had other non-cardiac abnormalities (6) or no other abnormalities (5). The associated cardiac anomalies recorded in the literature are reviewed and 2 infants in this series are reported with abnormalities not previously described. The results of chromosomal analysis have generally been found to be normal, although a patient in our series was found to have trisomy E (18). The incidence of hypoplasia of the DAOM in newborn infants in a maternity hospital hospital is assessed and was found to be lower than reported in other studies. It is concluded that a detailed and careful examination for congenital abnormalities should be carried out on every child with an asymmetrical crying facies.

Child, Preschool↗
PubMed1980

Temporal fat pad sign during corticosteroid treatment.

Hypercortisolism alters the distribution of body fat, causing truncal obesity, moon facies, buffalo hump, and other localized fatty deposits. In a patient with a mixed collagen vascular disease (overlap syndrome), who received high systemic doses of prednisone, prominent painless bitemporal masses developed in association with moon facies. Punch biopsy specimens of the lesion disclosed normal adipose tisue. This unappreciated feature of hypercortisolism is described, and other clinical manifestations of glucocorticoid excess involving fat tissue are reviewed briefly.

Adipose Tissue↗
PubMed1993

[Nosologic evaluation of Noonan syndrome and description of nine cases].

Noonan syndrome was first described over 20 years ago by Noonan and Ehmke. They defined a specific group of nine patients with valvular pulmonary stenosis who, in addition, had short stature, mild mental retardation, hypertelorism and unusual facies. The incidence of Noonan syndrome has been estimated to be between 1 in 1000 and 1 in 2500 live births. The primary biochemical defect in Noonan's syndrome is unknown. We analyzed 9 patients (5 males and 4 females) in an age range of 6 months to 10 years and 3 months with Noonan syndrome. Patients were diagnosed as having the syndrome if they had characteristic facies and a normal karyotype, plus one of the following signs: cardiac defects, short stature or undescended testes. All patients have ocular anomalies (epicanthal folds, ptosis of eyelids, hypertelorism, downslanting palpebral fissures and ocular proptosis). Congenital heart malformations are present in 8 patients and the more frequent cardiopath is pulmonary valve stenosis due to a dysplastic or thickened valve. Short stature is present in 6 patients and 3 of them are actually on treatment with rhGH. A moderate-mild mental retardation is present in 6 patients. Case n. 9 had a syringomyelia and tethered cord. These malformations are rarely reported in Noonan's syndrome.

Blepharoptosis↗
PubMedDate not supplied

[Particularities and stratification of malaria in Madagascar].

The first factor is the malaria parasite, for which the species P. falciparum and P. vivax are important. Secondly, the transmission determines the disease stability and challenges the host's immunity. The third factor is the human host, consisting of people of both African and Asiatic origin, the latter of whom are more susceptible to P. vivax. Human activities such as cultivating rice fields are of paramount importance for the proliferation of the vectors. The vectors A. gambiae, A. arabiensis and A. funestus are very similar to those of the African continent. These vectors are not endemic on Madagascar, suggesting that they were recently introduced to the island where 95% of the fauna species are endemic. On the Plateau and in the South, the rice fields provide most of the breeding places for A. gambiae s.l. and A. funestus. Five epidemiological belts are found in Madagascar which are very similar to their analogs on continental Africa (fig. 1). These facies include the equatorial belt on the east coast and the tropical belt on the west coast north of Morondava, the Plateau belt analogous to the southern African continent, the southern Madagascar belt which is similar to the Sahelian areas, and finally the zones above 1,500m, which are essentially free of malaria. The first two facies have a stable type of malaria, and in the following two, malaria is unstable. These areas include the Plateau, the area of the severe epidemics which occurred between 1985 and 1988 with more than 50,00 deaths. Malaria control is based on a variety of strategies to respond to the epidemiological heterogeneity of the disease. Spraying within the homes with DDT, used on the Plateau after 1988, was and still is very successful.

Climate↗
PubMed2003

Genitopatellar syndrome: expanding the phenotype.

Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations.

Facies↗
PubMed2004

Growth hormone deficiency (GHD): a new association in Peters' Plus Syndrome (PPS).

We report a case of a girl with clinical features of Peters' Plus Syndrome (PPS) (association of anterior eye chamber defects; peculiar facies; cleft lip/palate; brachymelia; developmental delay; growth retardation) and documented growth hormone deficiency (height -3.5 SDS at chronological age 5 years 8 months; low growth factors; bone age delay; growth velocity 4.4 cm/year (<3rd centile); and peak growth hormone levels of 1.7 and 4.7 ng/ml by clonidine and insulin provocative testing, respectively). Treatment with recombinant human growth hormone (0.3 mg/kg/week) resulted in a dramatic increase in growth velocity, increasing the height from -3.5 to -1.5 SDS over 2.3 years of therapy, indicative of an excellent response. Growth retardation is a known association in PPS: a condition that includes other midline facial defects. This case supports a role for GHD in the pathogenesis of the short stature observed in these children; demonstrates the efficacy of GH treatment; and further reinforces the relationship of pituitary anomalies with common congenital defects.

Anterior Chamber↗
PubMed2003

X-linked cubitus valgus with mental retardation and typical face.

In 1973, Jones and Smith described two maternal male first cousins with a similar pattern of malformation, including mental retardation, cubitus valgus, and unusual facies. The purpose of this report is to describe three additional cases, a 10-year-old male and his 30-year-old maternal uncle and an unrelated 15-year-old boy, bringing to five the total number of individuals with this disorder. The principal features include moderate mental retardation, mild microcephaly, a short philtrum, deep-set, downslanting palpebral fissures, multiple nevi, and striking cubitus valgus. Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition.

Abnormalities, Multiple↗
PubMed2006

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

The 6p25 microdeletion syndrome comprises the Axenfeld-Rieger eye anomaly in association with a characteristic facies, developmental delay, hearing loss, and organ malformations. Skeletal anomalies in the form of hemivertebrae, clubfeet, and other positional joint anomalies have also been described in some patients. We report on a patient with a 2.2-2.4 Mb terminal microdeletion of the short arm of chromosome 6 who in addition had abnormalities of the proximal femoral and humeral epiphyses. We suggest that an epiphyseal dysplasia may be an additional clinical component of the 6p25 microdeletion syndrome.

Abnormalities, Multiple↗
PubMed1995

Development of the olfactory nerve: its relationship to the craniofacies.

Although absence of the olfactory bulbs is a relatively common occurrence seen in holoprosencephaly, in Kallman syndrome, and in a number of malformation syndromes, the extent to which it determines olfactory nerve development, as well as the part it plays in the morphogenesis of the nasal structures, is unknown. Cases of arhinencephaly ascertained at autopsy were studied in an effort to better understand the relationships between the olfactory nerve, bulb, and facies. Based on these studies, it is concluded that both olfactory receptor cells and olfactory nerves are present in arhinencephaly, that the olfactory nerves did not make contact with the brain in these cases, that the presence of olfactory nerves is independent of the severity of the central nervous system malformation, and that the shape of the nasal structures is not dependent on the presence of the olfactory nerve.

Animals↗
PubMed1995

Effect of marginal ascorbic acid deficiency on saliva level of cortisol in the guinea pig.

Male guinea pigs subjected to prolonged marginal ascorbic acid deficiency developed moon facies and oedema, features of functional adrenal hypercorticism. Compared with age- and sex-matched controls fed an adequate diet for a similar period, ascorbate deficiency had no effect on submandibular gland weight but elicited a significant (p < 0.005) reduction in stimulated whole-saliva flow rate. Plasma cortisol concentration (nmol/L) was significantly increased (p < 0.005) in the deficient animals (998.21 +/- 57.19 compared to 254.66 +/- 15.62 for the controls). Associated with marked hypercortisolaemia in the deficient animals was a significant (p < 0.01) but less prominent increase in the whole-saliva cortisol level, resulting in a mean saliva/plasma cortisol ratio of 46% for this group compared to 72% for the controls. Increased corticosteroid levels suppress immunological and inflammatory responses, particularly neutrophil function, impair production of some cytokines, inhibit collagen synthesis, and impair wound healing and bone matrix formation. Numerous conditions such as ageing, stress, smoking, ionizing radiation, ingestion of drugs, protein malnutrition, diabetes, and several other pathological states, which are among the risk factors for xerostomia and periodontal/oral mucosal lesions, promote tissue depletion of ascorbate. This study suggests that increased salivary and blood levels of glucocorticoids in these conditions may be important in reducing the ability of the host to mount an effective immune response to oral pathogens.

Adrenocortical Hyperfunction↗