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Biomedical subjects

H V Toriello

Publications and source records attributed to H V Toriello.

At least 19 recordsLinked to original sources
PubMed1990

Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse.

A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.

Abnormalities, Multiple↗
PubMed1989

Renal tubular dysgenesis: delayed onset of oligohydramnios.

Two premature sibs had Potter sequence and died of respiratory failure within the first day. Ultrasonography at 26 weeks during the earlier of the two pregnancies showed complete absence of amniotic fluid, and the urinary bladder was not visualized. Ultrasound examinations during the second pregnancy showed adequate amniotic fluid at 16 and 20 weeks, with a subsequent reduction in fluid volume. Two older sibs had also died of respiratory failure shortly after birth. Postmortem histopathologic studies showed all four sibs to have severely deficient renal tubular development. However, the presence of numerous glomeruli indicated prolific nephrogenesis. Most of the tubules in sections of cortex had the lectin-binding and immunohistochemical characteristics of collecting ducts; proximal tubules were not identified by lectin-binding. Electron-microscopic examination showed a general absence of differentiated characteristics in cortical tubular epithelium, except that rare tubules contained rudimentary proximal tubular brush borders. Three of the sibs were boys, one a girl. The three children that were studied had normal chromosomes. Two unaffected sibs are alive and well. Neither parent has any clinical evidence of renal disease. These studies support the interpretation that renal tubular dysgenesis is autosomal recessive with pleiotropy. However, the relatively late appearance of oligohydramnios makes early diagnosis difficult, even when the condition is suspected.

Amniotic Fluid↗
PubMed1988

Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?

We report on a boy with congenital scalp and limb defects, consistent with a diagnosis of Adams-Oliver syndrome (aplasia cutis congenita with terminal transverse limb defects). An additional finding present in this child and in his mother was cutis marmorata telangiectatica congenita. Although this boy fits the diagnostic criteria for Adams-Oliver syndrome, his mother does not. We discuss whether this condition is highly variable, or heterogeneous.

Abnormalities, Multiple↗
PubMed1988

Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

We describe findings in four children, three of whom are sibs, who appear to have the same, previously undescribed multiple congenital anomaly (MCA) syndrome. The main manifestations include agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormal ears, redundant neck skin, laryngeal anomalies, cardiac defect, short hands, and hypotonia. The presence of this condition in sibs of each sex suggests that autosomal recessive inheritance is the most likely cause.

Abnormalities, Multiple↗
PubMed1988

New syndromes from old: evaluation of heterogeneity and variability in syndrome definition and delineation.

In 1969, McKusick discussed the nosology of genetic disease and the importance of considering heterogeneity and variability. Those considerations are still important today in that new syndromes are being described at the rate of one or more per week. However, often a "new" syndrome actually represents variable expression of a previously described condition; at other times, a child is reported as having a variant of a previously described syndrome when in reality that child has a distinct condition. The concepts of variability and heterogeneity will be discussed in the context of recently described findings in some "old" syndromes, thus shedding new light on them.

Disease↗
PubMed1988

Heterogeneity and variability in the oral-facial-digital syndromes.

The oral-facial-digital syndromes are a heterogeneous group of conditions sharing oral, facial, and digital anomalies. Based on more or less subtle clinical differences, at least seven causally different entities can be identified in this group. These include 1) oral-facial-digital syndrome (OFDS) I; 2) Mohr syndrome (OFDS II); 3) OFDS III; 4) OFDS with tibial anomalies (OFDS IV); 5) Thurston syndrome; 6) Varadi syndrome; and 7) Whelan syndrome. However, since differentiation between these entities is based on clinical findings, this classification should be viewed as tentative until more definitive methods are available.

Abnormalities, Multiple↗
PubMed1987

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

Two sibs and one unrelated infant were born prematurely with taut, shiny, restrictive skin that was abnormal in structure, organization, biochemistry, and state of differentiation. Prominent abnormalities in all regions of the skin were recognized by light and electron microscopy, immunohistochemistry, and biochemistry. The epidermis was hyperplastic, hyperkeratotic, and parakeratotic. Keratohyaline granules were abnormal in structure, but the keratohyalin-derived protein filaggrin was apparently normal in quantity and biochemistry. The epidermal cells contained less than the expected quantity of high-molecular-weight, differentiation-specific keratins and the tissue stained with antikeratin antibodies in an aberrant pattern. Additional 48 and 56 kD keratin polypeptides, indicative of a hyperproliferative state, were expressed. The dermal-epidermal junction was remarkably flat and the dermis was thinner than normal. The connective tissue appeared stretched and was oriented like tendon rather than dermis. Collagen fiber bundles and fibrils were smaller in diameter than normal. The nails were normal but other epidermal appendages such as the pilosebaceous structures and the eccrine sweat glands were underdeveloped, suggesting that morphogenesis of these structures was arrested at an early stage in utero. The subcutaneous fat was at least twice the thickness of the dermis. The skin abnormalities appeared to be the cause of the flexion contractions, characteristic facies, and inability to survive because of restricted respiratory movements. The structural and biochemical abnormalities in the skin of affected infants may serve as markers for prenatal and postnatal diagnosis of the disorder, and may provide insight into the basic mechanism of the disease.

Filaggrin Proteins↗
PubMed1986

Sibs with the polyasplenia developmental field defect.

We report on two brothers each with absent spleen, multiple cardiac defects, and varying degrees of situs inversus. One brother also had omphalocele; the other also had annular pancreas. These findings are consistent with a diagnosis of polyasplenia, a complex developmental field defect affecting visceral and cardiac situs, with associated spleen and heart defects. We also discuss familial cases from a developmental field perspective.

Abnormalities, Multiple↗