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P S Dignan

Publications and source records attributed to P S Dignan.

At least 19 recordsLinked to original sources
PubMed1991

Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant.

Larsen syndrome is characterized by multiple congenital joint dislocations and flattened facies. Some cases have been familial, with both autosomal dominant and recessive patterns of inheritance. Reports of a form of Larsen syndrome, lethal in the neonatal period, are reviewed. We present a family in which recurrence of the syndrome was diagnosed prenatally, but a lethal outcome again resulted despite preparation for anticipated perinatal complications. Because of the wide clinical variation and the lack of a known metabolic defect, delineation between the various forms of Larsen syndrome is difficult. While the lethal variant appears to be a combination of the Larsen phenotype and pulmonary hypoplasia, other features noted in the lethal cases, such as abnormal palmar creases and laryngotracheomalacia, are also seen in patients with Larsen syndrome who survive.

Facial Bones↗
PubMed1990

Minor congenital malformations in infants of insulin-dependent diabetic women: association with poor glycemic control.

A prospective study of 171 insulin-dependent diabetic pregnant women was undertaken to establish the relationship of glycemic control with minor congenital malformations. Each live-born infant was assessed systematically by two independent examiners using a standardized checklist. There were 32 infants with minor congenital malformations (18.7%). There were significant differences in mean glycohemoglobin A1 between the group with minor congenital malformations and the group without congenital malformations at 12, 16, and 20 weeks, but not at 8 or 24 weeks. Logistic regression analysis showed that maternal age, race, gravidity, White class, duration of diabetes, maternal vasculopathy, and cigarette smoking were not significant variables correlated with minor congenital malformations. Because glycohemoglobin levels from 12-20 weeks are believed to reflect glycemic control from approximately 6-20 weeks, we conclude that poor glycemic control during late embryogenesis and early fetal development is associated with an increased risk of minor congenital malformations. We speculate that improvement of glycemic control during this period should decrease the risk of minor congenital malformations.

Blood Glucose↗
PubMed1989

Neuroaudiologic abnormalities in patients with type 1 neurofibromatosis.

Although the protean manifestations of neurofibromatosis have been studied for many years, much is yet to be learned about this disease in young children. Specifically, little is known about the prevalence and significance of early neurotologic abnormalities in this population. Our review of the recent literature, however, failed to identify any publication on the use of ABR and acoustic reflex testing in the pediatric neurofibromatosis population. This study reports on a standardized differential diagnostic battery conducted on 44 children diagnosed as having neurofibromatosis. Results of the neuroaudiologic battery indicated that 32% of the children had significant abnormalities on ABR and acoustic reflex dynamic tests. This is a substantially higher prevalence of abnormalities than reported by another group at a recent NIH concensus meeting on neurofibromatosis. Discussion of the implications of these findings regarding evaluation protocols, as well as management for this select patient population, will follow.

Acoustic Impedance Tests↗
PubMed1989

Summary of patient data from a multidisciplinary neurofibromatosis clinic.

The Neurofibromatosis Clinic of the Children's Hospital Medical Center in Cincinnati, Ohio, is a multidisciplinary clinic which provides comprehensive care for persons affected with neurofibromatosis. Data are presented on 78 patients who fulfill the diagnostic criteria for neurofibromatosis-1. The information reported includes patient characteristics, complications and testing results.

Clinical Protocols↗
PubMed1988

Major malformations in infants of IDDM women. Vasculopathy and early first-trimester poor glycemic control.

From animal and in vitro studies, it has been suggested that high environmental glucose, ketone, or insulin concentrations and low glucose or insulin concentrations may be etiologic factors for congenital malformations (CMs) in infants of diabetic mothers (IDMs). Transplacental passage of antibody-bound insulin has been demonstrated in humans. Controversy exists regarding the pathophysiology of CMs in human insulin-dependent diabetes mellitus (IDDM) pregnancies. We hypothesized that CMs in IDMs are associated with maternal vasculopathy, poor first-trimester glycemic control (i.e., hyper- and/or hypoglycemia), advanced White class, and high insulin requirements. We studied 165 first pregnancies of women with IDDM from 1978 to 1986. The goals of glucose control were a fasting blood glucose of less than 100 mg/dl and a 90-min postprandial blood glucose of less than 140 mg/dl. Insulin requirements, body weight, and pre- and postprandial blood glucose were recorded at weekly clinic visits. Maternal blood HbA1 was measured on entry and every 4 wk to confirm that adequate glycemic control was achieved. Women who enrolled in the project were interviewed during gestation by a geneticist/dysmorphologist who obtained genetic and environmental histories using a standard questionnaire. All live-born infants and stillbirths were examined. Each live-born infant was assessed systematically by two independent examiners, a neonatologist and a geneticist/dysmorphologist; examination with standardized checklists was performed in the newborn nursery as soon after birth as was practical. In first pregnancies in the study, there were 13 IDMs with major CMs (7.9%).(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Glucose↗
PubMed1987

Decreased maternal serum magnesium concentration and adverse fetal outcome in insulin-dependent diabetic women.

Insulin-dependent diabetic pregnant women are at risk for magnesium deficiency, predominantly because of increased urinary magnesium losses. They also have a high incidence of spontaneous abortion, possibly related to major lethal malformations. We tested the hypothesis that adverse fetal outcome (fetal loss before 20 weeks' gestation and/or congenital major malformations) is related to magnesium status (as assessed by determining serum magnesium levels) in insulin-dependent diabetic pregnant women, even after sonographic documentation of fetal viability. Eighty-four insulin-dependent diabetic women (class B to RT) with 96 pregnancies were recruited prospectively in a program project. Serum magnesium and blood glycohemoglobin were measured at about nine weeks' gestation. Blood glycohemoglobin was higher (P = .039) and serum magnesium concentration lower (P = .05) in the 21 pregnancies that ended in adverse fetal outcome, compared with the other (75) successful pregnancies. When compared with the "successful pregnancy" group, blood glycohemoglobin was higher (P = .012) and serum magnesium lower (P = .037) in the subgroup of nine pregnancies with fetal cardiac activity present by ten weeks and ending in adverse fetal outcome, compared with the 64 equivalent pregnancies in the "successful" group. We speculate that decreased magnesium status may contribute to the high spontaneous abortion and malformation rate in insulin-dependent diabetic pregnant women.

Abortion, Spontaneous↗
PubMed1986

Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation.

A pregnant woman whose previous child had a diagnosis of I-cell disease was referred for evaluation of the fetus. Fluid obtained by amniocentesis and maternal serum showed abnormally increased levels of lysosomal enzymes suggesting that the fetus had I-cell disease. Sonography at 18 weeks showed abnormally short femurs and intrauterine growth retardation. The pregnancy was electively terminated at 19 weeks' gestation and the diagnosis was confirmed. Radiographs of the fetus demonstrated that the bony dysplasia is present early in fetal life with diffuse decrease in bone mineralization, a coarse, lacy, trabecular pattern, overall shortening and under-modelling of the long bones, subperiosteal bone deficiency in the diaphysis giving the appearance of periosteal new bone, hypoplasia of the anterior superior aspect of the upper lumbar vertebral bodies, broad ribs, abnormal pelvis with squared iliac wings and flattened acetabular roofs, and a small irregular calcaneal ossification center. There was good correlation between the radiographic findings and the microscopic findings in the bones. We observed deficient endosteal bone formation, small epiphyses, and poorly developed intervertebral discs. We speculate that this indicates impaired production of extra-cellular matrix by several different types of specialized mesenchymal cells. Abnormalities of transport of glycoproteins other than lysosomal enzymes or excess of extracellular acid hydrolases may be involved in the pathogenesis.

Bone and Bones↗
PubMed1986

Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.

A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her mother had a subsequent pregnancy that resulted in the delivery at 26 weeks, of a stillborn female fetus with cleft palate, index finger anomalies and congenital heart disease. These two patients are the first females reported with this group of anomalies. The etiology of this combination of malformations, the Catel-Manzke syndrome, is unknown.

Abnormalities, Multiple↗
PubMed1986

Multiple hamartomas associated with intracranial malformation.

We examined a newborn infant with multiple hamartomas, including an epidermal nevus syndrome and a giant pigmented congenital nevocellular nevus, associated with other structural developmental abnormalities such as nevus flammeus, vascular malformation, cutis aplasia congenita of the scalp, cartilage hamartoma, and a lipodermoid of the conjunctiva. This child had a significant brain malformation, diagnosed by sonography and computerized tomography, consisting of a significant enlargement of the left hemisphere not associated with asymmetry of the skull or facial bones. We suggest a careful investigation of the intracranial structures by computerized tomography and/or ultrasonography in case of either extensive linear nevus sebaceous sequence and/or giant pigmented nevocellular nevus.

Adult↗
PubMed1981

Down's syndrome: percentage reporting on birth certificates and single year maternal age risk rates for Ohio 1970-79: comparison with upstate New York data.

Estimates of single year maternal age risk rates for Down's Syndrome births to White residents of Ohio over the period 1970-79 are reported. The rates were estimated from birth certificate data, which first necessitated estimating the percentage of reporting of Down's Syndrome on Ohio birth certificates. Using data from cytogenetic laboratories within the state, percentages of Down's Syndrome cases reported were found to be 36.5 (319/875) for White and 33.9 (342/1,010) overall. Final single year maternal age risk rates reported here are corrected for underreporting using these figures. They should be useful for genetic counselors and obstetricians. Comparisons of observed, uncorrected single year maternal incidence rates were made within Ohio 1970-74 vs 1975-79, and between Ohio and upstate New York for various time periods using both a hierarchial log-linear model for multiway cross-tabulations and a weighted least squares solution. All comparisons showed excellent agreement, indicating no evidence for temporal or geographic differences and implying that environmental factors are unimportant in determining single year maternal age incidence rates in Down's Syndrome for the time periods and populations studied.

Adolescent↗
PubMed1981

Ocular abnormality associated with partial duplication of chromosome 13.

We studied a one-year-old child with multiple malformations and a tandem duplication of the distal two-thirds of 13q. The overall findings were similar to those usually found with partial duplication of chromosome 13. The ocular pathologic findings, including monocular spherophakia, were not suggestive of any known chromosomal syndrome, and their cytogenetic significance is not known. A review of 42 other cases of partial duplication 13 revealed a high (85%) incidence of ocular anomalies, most of which were comparatively minor or involved the ocular adnexa. Although ocular anomalies in this syndrome are associated with changes in different regions of chromosome 13, the major ones are usually associated with duplication of the proximal third of 13q and minor ones with the distal two-thirds of 13q.

Abnormalities, Multiple↗