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C Cunniff

Publications and source records attributed to C Cunniff.

13 recordsLinked to original sources
PubMed1992

Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex.

The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.

Adult↗
PubMed1992

Variable presentation of cytochrome c oxidase deficiency.

OBJECTIVE: To describe three patients with cytochrome c oxidase deficiency. DESIGN: Patient series. SETTING: Tertiary care children's hospital in Arkansas. PARTICIPANTS: A sibling pair and an unrelated patient referred for evaluation and found to have cytochrome c oxidase deficiency. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: Affected individuals had the characteristic presentation of psychomotor regression, growth deficiency, and lactic acidosis. The severity of the clinical course was found to correlate with the lactate-pyruvate ratio. Two of the infants had evidence, on magnetic resonance imaging, of subacute necrotizing encephalomyelopathy (Leigh disease). The most severely affected child had an unusual presentation of prenatal onset of structural anomalies including glabellar prominence, abnormal hair, loose skin, inguinal hernias, and hypospadias. CONCLUSIONS: The presentation and clinical course of cytochrome c oxidase deficiency are highly variable and the diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or subacute necrotizing encephalomyelopathy. Particular consideration should be given to this diagnosis when lactic acidosis is found in a neonate with structural anomalies.

Cytochrome-c Oxidase Deficiency↗
PubMed1992

Second-trimester markers of fetal size in schizophrenia: a study of monozygotic twins.

OBJECTIVE: Since the second prenatal trimester is the critical period of massive neural cell migration to the cortex, and fingertip dermal cells migrate to form ridges during this same period, the authors sought to determine whether there are differences in fingertip ridge count in pairs of monozygotic twins discordant for schizophrenia, possibly indicating that a prenatal anatomical insult affected the twins differently. METHOD: The fingertip dermal ridges of 30 pairs of monozygotic twins (23 pairs in which the twins were discordant for schizophrenia and seven pairs in which both twins were normal) were counted by two persons trained in anthropometric research. Intrapair differences in the counts were then measured, and the differences among the pairs of normal twins were compared with the differences among the pairs discordant for schizophrenia. RESULTS: The twins discordant for schizophrenia had significantly greater absolute intrapair differences in total finger ridge count and significantly greater percent intrapair differences than the normal twins; i.e., their fingerprints were significantly less "twin-like." CONCLUSIONS: The study suggests that various second-trimester prenatal disturbances in the epigenesis of one twin in a pair discordant for schizophrenia may be related to the fact that only one of the twins expresses his or her genetic predisposition toward schizophrenia. This is consistent with a "two-strike" etiology of schizophrenia: a genetic diathesis plus a second-trimester environmental stressor.

Adult↗
PubMed1991

Ovarian dysgenesis in individuals with chromosomal abnormalities.

To understand better the pathogenesis of ovarian dysgenesis in individuals with abnormalities such as 45,X Turner syndrome, trisomy 13, and trisomy 18, we have examined microscopically the ovaries of 36 infants with a number of chromosomal abnormalities confirmed by karyotype analysis. All infants with trisomy 13, trisomy 18, triploidy, and 45,X were found to have severe ovarian dysgenesis characterized by a virtual absence of primary oocytes. The ovaries of individuals with 21 trisomy and of those with partial deletion or duplication of an autosome demonstrated variable findings, which ranged from complete absence of oocytes to a mild diminution of oocyte numbers. The results of this study suggest that the attrition of germ cells in these infants is a result of faulty meiotic pairing and that ovarian dysgenesis is a more frequent finding in children with karyotypic abnormalities that has been realized previously.

Abnormalities, Multiple↗
PubMed1991

Interstitial deletion of chromosome 2q associated with ovarian dysgenesis.

In the present report we describe a girl with mental retardation, Dandy-Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.

Abnormalities, Multiple↗
PubMed1990

Terminal deletions of the long arm of chromosome 7: five new cases.

Twenty-two cases of terminal deletions of the long arm of chromosome 7 have been reported. We present 5 new cases, 3 of which were ascertained due to fetal holoprosencephaly, one due to anencephaly, and one due to multiple structural defects in a 15-year-old boy. The presence of holoprosencephaly in 3 of the 5 cases reported herein and in 2 previously reported cases suggests that this manifestation may be commonly observed in individuals with deletion 7q.

Abnormalities, Multiple↗
PubMed1990

Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use.

We present the case of a child who died of pulmonary hypoplasia as a result of the oligohydramnios sequence. The mother was taking enalapril, as well as propranolol and hydrochlorothiazide, for treatment of hypertension associated with systemic lupus erythematosus. Autopsy examination revealed severe renal tubular malformation. Correlation of animal data with previous case reports of neonatal anuria in association with maternal angiotensin converting enzyme inhibitors suggests that these agents may have a deleterious effect on fetal renal development and general well-being.

Amniotic Fluid↗
PubMed1990

Patterns of malformation in children with congenital diaphragmatic defects.

The medical records of 102 live-born children with a congenital diaphragmatic defect were reviewed to determine the frequency and nature of underlying chromosomal, genetic, and nongenetic patterns of malformation. Overall, 40 children (39%) had a major nonpulmonary malformation, and 14 of these children (14%) had a previously recognized pattern of malformation. A group of 18 children (18%) with cardiac anomalies had an increased mortality rate in comparison with those children without cardiac defects (72% vs 38%). The frequency and severity of nonpulmonary abnormalities in children with congenital diaphragmatic defects suggest that examination of affected children should include cardiac evaluation, a karyotype when the defect is one feature of a broader pattern of altered development, and a careful evaluation for minor anomalies, which may provide clues to an overall diagnosis.

Abnormalities, Multiple↗
PubMed1990

Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.

Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal facial features, diaphragmatic hernia, distal limb abnormalities, and malformations of the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Five cases of children with Fryns syndrome, including an example of familial recurrence and a case of long-term survival, are described. This report brings to 25 the number of cases reported in the literature and further serves to illustrate the clinical variability of this disorder.

Abnormalities, Multiple↗
PubMed1988

Autosomal dominant benign neonatal seizures.

Eight individuals in two generations of a family experienced seizures neonatally or in early infancy. Evaluation in two of these infants documented an EEG pattern suggestive of seizure activity without discernible pathogenesis of their seizures. Subsequently, affected individuals had a normal neurodevelopmental outcome, although one person had later epilepsy. The benign course of this disorder and its association with adult epilepsy agree with previously reported cases from the literature.

Electroencephalography↗
PubMed1988

Laterality defects in conjoined twins: implications for normal asymmetry in human embryogenesis.

We evaluated six pairs of conjoined twins: four pairs were dicephalus, and two were of the ischiopagus type. In three of the four dicephalus pairs, the right twin had an abnormality of laterality that included a right aortic arch, reversed great vessel orientation, bilateral right-sided isomerism of the lungs, asplenia, and situs inversus of the viscera. The left twin had normal great vessel orientation and situs solitus in each case. The finding that was unique in these three dicephalus twin pairs was their fused hearts, which were similar in orientation and configuration. The fourth dicephalus twin pair had one normally rotated heart, which was located in the midline and had normally placed chambers and great vessels. Each twin of this pair had normal visceral situs. In the two pairs of ischiopagus twins, each pair had two separate hearts, with normal cardiac structure and great vessel relationships. The viscera expressed normal laterality. Documentation of a defect in laterality in the right twin in three conjoined twin pairs with fusion of the hearts, combined with the presence of normal laterality in three pairs without cardiac fusion, has implications regarding the mechanisms leading to laterality of the human embryo. We suggest that rotation of the heart initiates the embryo's process of lateralization and that the laterality defects of the viscera seen in the right twin are a result of their abnormal cardiac rotation.

Abnormalities, Multiple↗