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At least 235 records · Page 13Linked to original sources
PubMed1993

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.

Adult↗
PubMed1996

Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.

We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. The patient showed severe mental and growth retardation. Since birth and up to the present he has suffered from multiple and varied infections. Immunological studies showed a marked decrease in leucocyte chemotaxis. Clinical and laboratory findings confirm the similarity of this case to the two brothers described by Say et al. We have not found any descriptions of similar patients. The purpose of this paper is to contribute to the phenotypic delineation of this syndrome and to highlight the need for immunological investigation in patients with multiple congenital malformations.

Abnormalities, Multiple↗
PubMedDate not supplied

Femoral hypoplasia--unusual facies syndrome: prenatal ultrasonographic observations.

FH-UFS is a rare syndrome characterized by bilateral femoral hypoplasia, together with facial dysmorphism. To the best of our knowledge, this is the first report describing prenatal ultrasonographic findings and in utero growth pattern of an infant with FH-UFS. Via analysis of our data it appears that the growth of the femur in our case was normal until the 24th week of pregnancy, at which time some in-utero insult occurred, resulting in temporarily arrested femoral growth. From the 34th week of pregnancy onward femoral growth rates returned to normal. We assume, therefore, that the etiology of FH-UFS is multifactorial. Only a combination of some hereditary proclivity, together with an intrauterine insult (possibly viral) could explain the appearance in the same fetus of cleft palate, developing at the 7th week of gestation, and a time-specific (25-32 weeks) disturbance of femoral growth.

Abnormalities, Multiple↗
PubMed1978

Adenoid facies.

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Adenoids↗
PubMed2006

Petrography of gypsum-bearing facies of the Codó Formation (Late Aptian), Northern Brazil.

An original and detailed study focusing the petrography of evaporites from the Late Aptian deposits exposed in the eastern and southern São Luís-Grajaú Basin is presented herein, with the attempt of distinguishing between primary and secondary evaporites, and reconstructing their post-depositional evolution. Seven evaporites phases were recognized: 1. chevron gypsum; 2. nodular to lensoidal gypsum or anhydrite; 3. fibrous to acicular gypsum; 4. mosaic gypsum; 5. brecciated gypsum or gypsarenite; 6. pseudo-nodular anhydrite or gypsum; and 7. rosettes of gypsum. The three first phases of gypsum display petrographic characteristics that conform to a primary nature. The fibrous to acicular and mosaic gypsum were formed by replacement of primary gypsum, but their origin took place during the eodiagenesis, still under influence of the depositional setting. These gypsum morphologies are closely related to the laminated evaporites, serving to demonstrate that their formation was related to replacements that did not affect the primary sedimentary structures. The pseudo-nodular anhydrite or gypsum seems to have originated by mobilization of sulfate-rich fluids during burial, probably related to halokinesis. The rosettes of gypsum, which intercept all the other gypsum varieties, represent the latest phase of evaporite formation in the study area, resulting from either intrastratal waters or surface waters during weathering.

Journal Article↗
PubMed1981

The many radiologic facies of pneumococcal pneumonia.

In 1978, 89 patients were treated for (S. pneumoniae) pneumonia at New York Hospital-Cornell Medical Center. Only 40 cases met rather strict diagnostic criteria. Of these, 12 demonstrated the classical consolidative (air space) pattern usually ascribed to this disease. A bronchopneumonic (patchy) pattern was demonstrated in an equal number of patients; interstitial (irregular linear) infiltrates were manifest in nine cases and a mixed interstitial and patchy presentation shown in seven cases. Absence of the consolidative pattern does not exclude pneumococcal pneumonia. Bacteriologic investigation is required to determine the proper diagnosis and course of therapy.

Adult↗