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H V Toriello

Publications and source records attributed to H V Toriello.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1986

Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.

We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet. We suspect he has a previously undescribed syndrome of presently unknown cause. We also discuss this case from a developmental field perspective, in view of the unusual combination of cerebral and facial defects.

Abnormalities, Multiple↗
PubMed1986

Isolated diaphragmatic defect in three sibs.

We describe three sisters with unilateral agenesis of the diaphragm. No other anomalies were present. As a developmental field defect, diaphragmatic defect is, by definition, causally heterogeneous, and may be seen in several syndromes. Whereas most isolated diaphragmatic defects are likely multifactorially determined, monogenic forms seem to exist.

Congenital Abnormalities↗
PubMed1985

Possible causal heterogeneity in spina bifida cystica.

A study was performed to determine whether causal heterogeneity can be demonstrated among the nonsyndromal spina bifida cysticas based on the vertebral level of the defect. Two groups were compared, probands with defects at or above T 11, likely representing defects of neuralization, and probands with defects at or below T 12, likely defects of canalization. Differences between the two groups were found with respect to reproductive history and occurrence of other malformations. A high degree of concordance for the type of defect among affected sib pairs was also observed. These findings indicate that there is probably heterogeneity within the spina bifida cysticas based on the level of the defect.

Abnormalities, Multiple↗
PubMed1985

Pulmonary and diaphragmatic agenesis: report of affected sibs.

We report on two sibs with pulmonary and diaphragmatic agenesis, a rare combination of malformations. We conclude that this represents a previously undescribed autosomal recessive condition affecting either multiple developmental fields or a single complex polytopic field.

Abnormalities, Multiple↗
PubMed1985

Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective.

Only a few cases of bilateral pulmonary agenesis have been reported. Recently we saw such a case in an infant with the hydrolethalus syndrome. This observation seems to indicate that bilateral pulmonary agenesis is a severe expression of a developmental field defect that usually is represented by abnormal lung lobation or hypoplasia. The previously reported cases are discussed from the perspective of the developmental field concept.

Abnormalities, Multiple↗
PubMed1985

Familial occurrence of a developmental defect of the medial nasal processes.

We report on a family in which the propositus and two distant relatives have a wide nose, broad philtrum, and short columella, a fusion defect of the medial nasal processes. This anomaly resembles potato nose [Benjamins and Stibbe, Acta Otolaryngol 11:274-284, 1927] and bifid nose [Anyane-Yeboa et al, Am J Med Genet 17:561-563, 1984], which are also fusion anomalies of the medial nasal processes. Potato nose is an autosomal dominant trait, whereas bifid nose is likely heterogeneous. In this family autosomal recessive inheritance is likely, therefore suggesting that anomalies of the medial nasal processes are causally heterogeneous and represent a developmental field defect.

Adult↗
PubMed1985

X-linked syndrome of branchial arch and other defects.

We report on two brothers and their maternal first cousin who have branchial arch defects and other anomalies. Similar physical findings in all three include microcephaly, downslanting palpebral fissures, highly arched palate, apparently lowset, protruding ears, bilateral hearing loss, slightly webbed neck, and mild short stature. In addition, two boys had cryptorchidism, and one had subvalvar pulmonic stenosis and body asymmetry. We suggest that these cousins have an X-linked syndrome of which branchial arch defects are a component. Other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well.

Abnormalities, Multiple↗
PubMed1985

X-linked midline defects.

Opitz and Gilbert [Am J Med Genet 12:443-455, 1982] have postulated that the midline may be a kind of developmental field. Although developmental field defects (primary malformations) usually occur sporadically, in some instances they can be caused by a single gene mutation. We report on a family in which the occurrence of midline defects was consistent with X-linked inheritance. Anomalies present in the family include hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias.

Abnormalities, Multiple↗
PubMed1985

Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?

Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena-Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena-Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.

Abnormalities, Multiple↗
PubMed1985

Report of a case and further delineation of the SHORT syndrome.

We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.

Abnormalities, Multiple↗