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S Arias

Publications and source records attributed to S Arias.

31 records · Page 2Linked to original sources
PubMed1978

Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum.

Two large pedigrees with Waardenburg syndrome type I (W--I), i.e. with dystopia canthorum and blepharophimosis, are described to show both the variable expressivity of dystopia canthorum, which may be confused with non-penetrance of this sign, and the possibility to firmly diagnosis it with the new biometric index W, which differentiates a dystopic from a non-dystopic or a non-apparent dystopic subject, the latter within a defined biometric range. A general discussion of the relative value of blepharophimosis and dystopia canthorum as diagnostic features in W--I is presented, to conclude on the greater value of dystopia canthorum, which can be identified with confidence in more than 96% of carriers. Empirical probabilities are given for dystopia canthorum and blepharophimosis in the general populations, based on data from the world literature, useful for all ethnic groups.

Abnormalities, Multiple↗
PubMed1976

[Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. New type of dwarfism with short spine and metatarsals].

A new dwarfism of a spondyloepiphysometaphyseal dysplasia is described among Venezuelan Indians of the Yukpa (Irapa) tribe. Brachyrrhahia, brachymetatarsia and brachyrhyzomelia in upper limbs and manifestations in proximal epiphyses of femora and distal epiphyses of humera, with moderate to serious impairment of gait, but no significance deviations of the spine, are the main clinical findings. It is a well individualized type among a very heterogeneous and ill-defined group of chondrodystrophies. The inheritance is through an autosomal recessive or less probably an X-linked gene.

Adult↗
PubMed1975

Probable loose linkage between the ABO locus and Waardenburg syndrome type I.

The possibility of linkage was tested in 3 large kindreds with Waardenburg syndrome type I against the ABO locus. Loose linkage is probably present; the recombination fraction in males, females, and both sexes combined seems to be approximately theta' equals 0.175, theta equals 0.255, and theta', theta equals 0.20, respectively. There are still more informative matings to be studied in those pedigrees, as well as the inminent possibility of determining the phase status in several of them, for the ABO locus and a few other loci.

ABO Blood-Group System↗
PubMed1971

Genetic heterogeneity in the Waardenburg syndrome.

Waardenbury syndrome is divided into three groups: Type I, with dystopia; Type II, and "pseudo-Waardenburg" syndrome, without dystopia; the third has unilateral congenital ptosis. Using Waardenburg's original variables a, b and c, ratios a/b and c/a, Cotterman's L function, newly described indices X and Y and some phenotypic manifestations, a confident neat separation of each type can be obtained. New cases of all types and electron micrographs of the hair pigment anomaly are described.

Abnormalities, Multiple↗
PubMedDate not supplied

[Hepatic glycogenosis: the clinical, biochemical and enzymatic aspects in a group of pediatric patients].

Nine children with clinical diagnosis of glycogenoses were studied, types were confirmed through determination of levels and structure of glycogen, stimulation with glucagon and enzymatic defect analyses. Eight patients suffered glycogenoses type III and one, type VI. The major age group un type III was 1 to 2 years old (62.5%), the type VI was diagnosed in a preschool boy. Mean clinical features were: hepatomegaly, doll-like facies and short height. Major biochemical alterations were: transaminases elevation in both types, hypertriglyceridemia, hyperglycemia, metabolic acidosis and hyperuricemia only in glycogenoses III. One III type patient presented cardiovascular alterations. All patients showed increased concentrations of erythrocyte glycogen, with normal structure in type VI and abnormal in 75% of type III. Tree fourths of type III patients had a positive response to glucagon stimulation. No one presented glucose 6 phosphatase deficiency.

Blood Glucose↗