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Biomedical subjects

H V Toriello

Publications and source records attributed to H V Toriello.

At least 37 records · Page 2Linked to original sources
PubMed1994

Teebi hypertelorism syndrome: report of a third family.

We report a mother and daughter who have hypertelorism, mild limb defects, umbilical hernia/omphalocele, natal teeth and minor craniofacial anomalies. These individuals represent the third family with Teebi hypertelorism syndrome, a rare autosomal dominant syndrome.

Abnormalities, Multiple↗
PubMed1993

Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.

Stippled epiphyses occur in several monogenic, teratogenic, or aneuploidy syndromes. We describe two sibs with a provisionally unique chondrodysplasia punctata syndrome, who have, in addition to stippled epiphyses, minor facial anomalies, short stature, and ocular colobomata. Inheritance of this condition is likely autosomal recessive.

Abnormalities, Multiple↗
PubMed1993

Oral-facial-digital syndromes, 1992.

In 1988, there were seven conditions which could be considered distinct oral-facial-digital syndromes (OFDS). Currently there are at least nine, as well as different classification systems in use. This paper provides an update on recently described OFDS, and discusses alternative classification systems.

Abnormalities, Multiple↗
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↗