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Biomedical subjects

J L Frias

Publications and source records attributed to J L Frias.

At least 37 records · Page 2Linked to original sources
PubMed1987

Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux.

We have studied a 3-month-old boy with severe gastroesophageal reflux, feeding difficulties, neck and upper limb dystonia, abnormal ears, normal genitalia, and anatomically apparently normal larynx and trachea. Initially diagnosed as suffering from Sandifer "syndrome," he was treated with a gastrostomy and Nissen fundoplication. However, his characteristic facial appearance subsequently led to the diagnosis of G syndrome.

Abnormalities, Multiple↗
PubMed1986

Isolated and syndromic cryptophthalmos.

The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation Fraser syndrome. We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified. Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission--strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission. The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin A deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.

Abnormalities, Multiple↗
PubMed1984

Intrauterine positional deformations masquerading as multiple congenital malformations.

A 1,340-g male neonate was delivered by emergency cesarean section at 28 weeks' gestation following failed therapy with isoxsuprine hydrochloride and fetal distress. Transverse-lie presentation with the posterior side of the thorax wedged into the maternal pelvis and the head flexed firmly against the anterior side of the thorax led to a severe deformation sequence initially interpreted as multiple congenital malformations. This case illustrates the difficulty in distinguishing between pure deformations and malformations with and without subsequent deformations. It also emphasizes the clinician's need for a definitive diagnosis to guide the management of suspected malformations that are potentially lethal or portend a poor neurodevelopmental outcome.

Abnormalities, Multiple↗
PubMed1983

Cardiovascular manifestations in the Larsen syndrome.

The Larsen syndrome consists of a skeletal dysplasia with multiple joint dislocations and a characteristic facies. The basis of the abnormalities is felt to be a generalized mesenchymal disorder involving connective tissues. More than 80 cases have been reported in the literature with isolated reports of congenital cardiac septal defects and acquired abnormalities of the aorta and mitral valve. A case with marked aortic dilation and insufficiency as well as an aneurysm of the ductus arteriosus is presented. The aortic lesions are similar to those described in other connective tissue disorders, particularly the Marfan syndrome. Previous reports of ductal aneurysms have not revealed an association with connective tissue disorders, but have described a significant morbidity. In summary, patients with the Larsen syndrome are likely to have cardiac lesions similar to those classically associated with the Marfan syndrome; these patients deserve a careful investigation for cardiac anomalies. These aortic lesions may be as prognostically significant as cardiac lesions in the Marfan syndrome.

Aortic Valve Insufficiency↗
PubMed1982

The Angelman ("happy puppet") syndrome.

We report studies of six patients with the Angelman "Happy Puppet" syndrome and compare the data with those from previous reports. The results confirm the classic findings of severe mental retardation, "puppet-like" gait, characteristic craniofacial abnormalities, and frequent episodes of laughter and suggest that this syndrome is more common than previously thought. Computerized axial tomographs of the brain demonstrating unilateral cerebellar atrophy in one patient constitute the first direct evidence of cerebellar abnormalities in this syndrome.

Adolescent↗
PubMed1982

A cephalometric study of fetal alcohol syndrome.

Analysis of cephalometric radiographs of 12 children with fetal alcohol syndrome corroborated the clinical observation of midfacial deficiency described in patients with this disorder. Contrary to previous reports, however, our data show that this abnormality is not caused by true maxillary hypoplasia but by retrusion of the maxilla. We postulate that this abnormal position is secondary to restricted forward growth of the face, resulting from abnormal brain growth and subsequent shortening of the anterior cranial base.

Adolescent↗
PubMed1982

Evaluation of a Tay-Sachs screening program on a college campus.

A screening program for Tay-Sachs disease was done on a predominantly unmarried, university student population and later evaluated. Ten carriers were detected among a population of 390 screened. Voluntarily screened individuals were given a questionnaire at the time of screening and after their carrier status was revealed. In addition, individuals in a target population were queried as to why they did not attend the screening. Results of evaluation indicate that both the screened and unscreened students were able to answer approximately two thirds of a set of questions on Tay-Sachs correctly, but there was widespread lack of knowledge regarding the implications of carrier status and inheritance of the disease. In general, respondents to the questionnaires were not opposed to abortion. However, when asked about the family planning alternatives that they would consider if they were carriers, more subjects preferred adoption, artificial insemination, or avoidance of pregnancy to abortion.

Abortion, Eugenic↗
PubMed1979

Folate antagonism following teratogenic exposure to diphenylhydantoin.

Previous studies have reported indirect evidence for the mediation of folate antagonism in the induction of malformations by diphenylhydantion. We have demonstrated that a teratogenic regimen of folate-deficiency and antagonism using 9-methyl PGA in the rat produces significantly decreased rates of oxygen consumption in the maldeveloping embryos. The present study reports similar reductions in oxygen uptake by mouse embryos from mothers treated with teratogenic doses of diphenylhydantoin, and documents a significant depression of the actual folate levels in such embryos. The differences are less significant with lower doses of diphenylhydantoin, and do not occur with a nonteratogenic dose.

Abnormalities, Drug-Induced↗
PubMed1979

A cephalometric study of the craniofacial skeleton in trichorhinophalangeal syndrome.

A prominent feature of the trichorhinophalangeal syndrome is a very characteristic facies. This study quantitates differences in craniofacial skeleton between affected and unaffected members of the same kindred. Standard scores for various measurements taken from lateral cephalometric radiographs were compared for statistical significance, and these were further correlated with similar data calculated from length measurements of the middle phalanx of the second digit. The affected group had a shortened posterior face height (p less than 0.01) associated with a short mandibular ramus (p less than 0.01) as well as a reduced and superiorly deflected posterior cranial base (p less than 0.01). These craniofacial changes result in a steep inclination of the lower border of the mandible (p less than 0.01) and suggest disturbances in the epiphyseal growth sites of the skull as demonstrated by a high degree of correlation between the dysplasia of the cranial base, shortening of the posterior portion of the face, and shortening of the middle phalanx of the second digit.

Adolescent↗
PubMed1978

Normal intelligence in two children with Carpenter syndrome.

Previous reports have noted a constant association between the Carpenter syndrome (acrocephalopolysyndactyly, type II) and mental retardation. We report two patients with this condition with normal intelligence. These observations indicate that mental deficiency is not necessarily a component of the Carpenter syndrome and that early surgical correction of the craniosynostoses may improve the chances of normal mentality.

Acrocephalosyndactylia↗
PubMed1978

Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.

Adult↗