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Biomedical subjects

C J Curry

Publications and source records attributed to C J Curry.

54 records · Page 3Linked to original sources
PubMed1987

Plasma carnitine deficiency. Clinical observations in 51 pediatric patients.

We studied the clinical spectrum associated with secondary plasma carnitine deficiency in 51 pediatric patients. Forty-three patients had total plasma carnitine values below 20 mumol/L and an additional eight patients had total values above 20 mumol/L but had low free plasma carnitine levels. The clinical presentation in the patients with total plasma carnitine deficiency included hypotonia (34 of 43), failure to thrive (27 of 43), recurrent infections (27 of 43), encephalopathy (six of 43), nonketotic hypoglycemia (seven of 43), and cardiomyopathy (nine of 43). Of the eight patients with low free and elevated esterified carnitine levels, the signs and symptoms at presentation included hypotonia (six of eight), recurrent infections (six of eight), failure to thrive (six of eight), encephalopathy (three of eight), nonketotic hypoglycemia (one of eight), and cardiomyopathy (one of eight). All patients were treated with L-carnitine. Treatment time varied from one month to 24 months (average, four months). A subjective improvement in muscle tone was seen in 24 of 38 patients, 22 of 33 patients showed acceleration of incremental growth, and infection frequency appeared to decrease in 18 of 33 patients. After therapy, the echocardiograms of all patients with cardiomyopathy normalized. There were no further hypoglycemic episodes. Of the nine patients with encephalopathy, eight showed improvement in their mental status. Three patients died of complications of their primary disorder. In our experience, secondary plasma carnitine deficiency is a common pediatric finding. The presence of failure to thrive, recurrent infections, hypotonia, encephalopathy, cardiomyopathy, or nonketotic hypoglycemia requires investigation of carnitine status.

Adolescent↗
PubMed1987

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

In 1964, Smith et al described a syndrome of microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Major structural malformations and early death have been uncommon in the many subsequent literature reports. We report on 19 infants with a phenotype we propose to call Smith-Lemli-Opitz syndrome (SLOS)-Type II, in which major structural abnormalities, male pseudohermaphroditism, and early lethality are common. Of these 19 patients, 18 had postaxial hexadactyly, 16 had congenital heart defect, 13 had cleft palate, and 10 had cataracts. Unusual findings seen in these patients at autopsy included Hirschsprung "disease" in five patients, unilobated lungs in six, large adrenals in four, and pancreatic islet cell hyperplasia in three. Comparison of our cases to 19 similar literature cases suggests the existence of a distinct phenotype that may be separate from SLOS as originally described. It is also inherited as an autosomal recessive, as documented by occurrence in one pair of sibs in this study and recurrence in three reported families.

Abnormalities, Multiple↗
PubMed1987

Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature.

The Noonan syndrome (NS) is a true multiple congenital anomalies (MCA) syndrome with numerous manifestations. An association with lymphedema has been noted, but its pathogenesis is not fully understood. Nine new cases and a review of the literature explore the role of lymphedema in NS, including its pathogenesis, presentations, and phenotypic effects. Consideration is given to developmental stage at time of onset, chronicity, resolution, and anatomic site. It appears likely that lymphedema is a much more frequent concomitant in NS than previously realized. The major source of lymphedema in NS appears to be a presently undefined dysplasia of lymphatic vessels of unknown cause. Further study of lymphedema may provide an understanding of its role in shaping the NS phenotype. Comparison with other MCA syndromes and animal models is made in this regard. Relevance to prenatal diagnosis and treatment is discussed.

Adult↗
PubMed1986

Prenatal diagnosis of the Beckwith-Wiedemann syndrome.

We report on the prenatal diagnosis of Beckwith-Wiedemann syndrome (BWS) in a pregnancy monitored because of a previously affected child. The proposita had classical stigmata of BWS including macroglossia, omphalocele, and typical ear creases. Chromosomes were 46,XX. Both parents and the extended maternal family were clinically normal. In a subsequent pregnancy by another father, the mother had serial ultrasound monitoring at 13.5, 18, and 19 weeks gestation which showed an enlarged abdominal circumference and a 2-cm omphalocele. At termination the female fetus weighed more than two times the expected weight, had striking hypertrophy of skeletal muscles, a protuberant abdomen, and a 2-cm omphalocele and characteristic facial appearance. Autopsy confirmed generalized organomegaly. This is the first report of the prenatal diagnosis of BWS prior to 20 weeks in an at-risk family. The recurrence in this family emphasizes the difficulty in providing accurate genetic recurrence risks in BWS and suggests that ultrasonographic prenatal diagnosis should be offered to families even when the case appears to be "sporadic."

Abortion, Induced↗
PubMed1985

Retinoic acid embryopathy.

Retinoic acid, an analogue of vitamin A, is known to be teratogenic in laboratory animals and has recently been implicated in a few clinical case reports. To study the human teratogenicity of this agent, we investigated 154 human pregnancies with fetal exposure to isotretinoin, a retinoid prescribed for severe recalcitrant cystic acne. The outcomes were 95 elective abortions, 26 infants without major malformations, 12 spontaneous abortions, and 21 malformed infants. A subset of 36 of the 154 pregnancies was observed prospectively. The outcomes in this cohort were 8 spontaneous abortions, 23 normal infants, and 5 malformed infants. Exposure to isotretinoin was associated with an unusually high relative risk for a group of selected major malformations (relative risk = 25.6; 95 per cent confidence interval, 11.4 to 57.5). Among the 21 malformed infants we found a characteristic pattern of malformation involving craniofacial, cardiac, thymic, and central nervous system structures. The malformations included microtia/anotia (15 infants), micrognathia (6), cleft palate (3), conotruncal heart defects and aortic-arch abnormalities (8), thymic defects (7), retinal or optic-nerve abnormalities (4), and central nervous system malformations (18). The pattern of malformation closely resembled that produced in animal studies of retinoid teratogenesis. It is possible that a major mechanism of isotretinoin teratogenesis is a deleterious effect on cephalic neural-crest cell activity that results in the observed craniofacial, cardiac, and thymic malformations.

Abnormalities, Drug-Induced↗
PubMed1984

Investigation of nonimmune hydrops fetalis.

Fifty pregnancies complicated by fetal ascites and generalized edema are reviewed and their prenatal findings, obstetric management, and fetal outcome are discussed. From the myriad of maternal, fetal, and placental problems which are known to cause nonimmune hydrops fetalis, many different causes of the disorder could be identified in 84% of all patients studied by extensive prenatal and postnatal workup. Therefore, in only 16% of the cases was the nonimmune hydrops fetalis labeled "idiopathic." The most common demonstrable causes of the disorder in this series were cardiac anomalies, followed by chromosomal disorders, congenital malformations, alpha-thalassemia, and the twin-twin transfusion syndrome. A systematic approach to the prenatal diagnostic workup of nonimmune hydrops fetalis is outlined, starting with the least invasive techniques (ultrasound, echocardiography, complete blood count, Kleihauer-Betke analysis, TORCH testing, and so forth) followed by more invasive techniques (amniocentesis and fetoscopy). Although the detection and prognostic evaluation of nonimmune hydrops fetalis are greatly improved by applying these techniques, the overall prognosis for most fetuses with nonimmune hydrops fetalis is still very poor, and only a few conditions causing the disorder, such as prenatally detected cardiac arrhythmias or selected cases of urinary tract obstruction, are amenable to treatment in utero.

Ascites↗
PubMed1984

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

We studied two families with an inherited deletion of the short arm of an X chromosome (Xp) in which affected male offspring have epiphyseal stippling in infancy (chondrodysplasia punctata), nasal hypoplasia, ichthyosis, and mental retardation. The presence of ichthyosis and the apparent pattern of X-linked recessive inheritance prompted investigation of the short arm of the X chromosome through studies of genetic markers and focused cytogenetic analysis. Biochemical studies suggested that there was a deletion of three genes previously mapped to the X-chromosome short arm, including the steroid sulfatase locus, the Xg locus, and the M1C2X locus. Prometaphase chromosomes demonstrated a deletion of Xp at p22.32 in the affected boys, in their obligate-carrier mothers, and in 11 of 25 women at risk as potential carriers. The women carrying the Xp deletion had normal gonadal function and fertility but were shorter than the noncarriers in their families (P less than 0.00001). These findings have implications for the genetic organization of this portion of the human X chromosome and demonstrate that small cytogenetic abnormalities may account for disorders with apparent mendelian patterns of inheritance.

Adolescent↗
PubMed1984

The fetal valproate syndrome.

We evaluated seven children who had been exposed to sodium valproate (or valproic acid) in utero. A consistent facial phenotype was observed in all seven in addition to other birth defects in four. The facial changes consisted of epicanthal folds which continued inferiorly and laterally to form a crease or groove just under the orbit, flat nasal bridge, small upturned nose, long upper lip with a relatively shallow philtrum, a thin upper vermillion border, and downturned angles of the mouth. Hypospadias, strabismus, and psychomotor delay were found in two males; two children had nystagmus and two had low birth weight.

Epilepsy↗
PubMed1984

The Potter sequence: a clinical analysis of 80 cases.

Eighty cases of Potter sequence due to a renal or urologic abnormality were studied retrospectively. The abnormal renal findings were bilateral renal agenesis in 21.25%; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%. Fifteen patients had multiple congenital anomalies; of these three had aneuploidy, four had autosomal recessive syndromes, and eight were of unknown cause. Results of chromosome analysis in 41 patients and 21 sets of parents were abnormal in three patients, one of whom had a balanced translocation carrier parent; two additional patients and three parents had apparently balanced translocations. There was one recurrence within the study (the first child had bilateral renal agenesis and the second cystic dysplasia). The ultrasound prenatal diagnosis of the renal abnormality was made in eight cases between 18 and 34 weeks. Family histories were suggestive of an autosomal dominant gene disorder with incomplete penetrance in four of 45 families with nonsyndromic bilateral renal agenesis and cystic dysplasia. The evaluation of patients with the Potter sequence should include an examination for nonrenal defects, autopsy, chromosome analysis, and renal ultrasound or urologic evaluation of parents. Ultrasonographic prenatal monitoring of subsequent pregnancies in such families is strongly warranted because of a definite but unknown degree of recurrence risk.

Abnormalities, Multiple↗
PubMed1982

De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duodenal atresia but died at the age of 3 months. Unilateral renal dysplasia and accessory spleens were found at necropsy.

Abnormalities, Multiple↗
PubMed1979

Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome.

This report describes a family in which eight individuals in three generations had mental retardation in association with a characteristic pattern of clinical problems and physical abnormalities including short stature, eczema, hernias, delayed puberty, dysmorphic facies and digital anomalies. The family history was consistent with a chromosomal rearrangement with transmission through balanced carriers. Routine ASG banding studies showed extra chromosomal material on a chromosome 16 but failed to demonstrate any differences between the affected individuals and the presumed carriers. However, subsequent studies utilizing trypsin banding and microspectrophotometry of individual chromosomes demonstrated that the affected individuals were partially trisomic for the distal band of the long arm of chromosome 5 and that 0.273 units of a chromosome 5 were translocated to chromosome 16. This definitive cytogenetic diagnosis permitted accurate prenatal diagnosis to be carried out on the fetus of a balanced carrier female. The application of these techniques to previously obscure familial dysmorphic syndromes is recommended.

Abnormalities, Multiple↗