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Biomedical subjects

E McPherson

Publications and source records attributed to E McPherson.

At least 19 recordsLinked to original sources
PubMed2005

An analysis of PAX1 in the development of vertebral malformations.

An analysis of PAX1 in the development of vertebral malformations. Due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible. We therefore identified PAX1 as a candidate gene in vertebral malformations and congenital scoliosis due to its mutation in the undulated mouse. We performed DNA sequence analysis of the PAX1 gene in a series of 48 patients with congenital vertebral malformations, collectively spanning the entire vertebral column length. DNA sequence coding variants were identified in the heterozygous state in exon 4 in two male patients with thoracic vertebral malformations. One patient had T9 hypoplasia, T12 hemivertebrae and absent T10 pedicle, incomplete fusion of T7 posterior elements, ventricular septal defect, and polydactyly. This patient had a CCC (Pro)-->CTC (Leu) change at amino acid 410. This variant was not observed in 180 chromosomes tested in the National Institute of Environmental Health Sciences (NIEHS) single nucleotide polymorphism (SNP) database and occurred at a frequency of 0.3% in a diversity panel of 1066 human samples. The second patient had a T11 wedge vertebra and a missense mutation at amino acid 413 corresponding to CCA (Pro)-->CTA (Leu). This particular variant has been reported to occur in one of 164 chromosomes in the NIEHS SNP database and was found to occur with a similar frequency of 0.8% in a diversity panel of 1066 human samples. Although each patient's mother was clinically asymptomatic and heterozygous for the respective variant allele, the possibility that these sequence variants have clinical significance is not excluded.

Base Sequence↗
PubMed2004

Infant with severe penicillamine embryopathy born to a woman with Wilson disease.

We report a chromosomally normal infant boy with congenital diffuse cutis laxa, severe micrognathia, contractures of all limbs, and central nervous system abnormalities including agenesis of the corpus callosum, born to a woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable for chronic lung disease, profound developmental delays, and probable cortical blindness, as well as resolution of his cutis laxa. Embryopathy is a rare complication in babies born to pregnant women treated with DP, and there have been only seven previous reports of birth defects in exposed infants (three of which had favorable postnatal outcomes). The etiology of the severe outcome in this boy is unclear, but prenatal measurement of maternal copper and zinc levels may be indicated for management.

Abnormalities, Drug-Induced↗
PubMed2002

Three cases of tetrasomy 9p.

We report three cases of tetrasomy 9p, two of which were confirmed prenatally. All three had characteristic findings on ultrasound and at birth. We also present a review of the literature, which suggests that a recognizable phenotype for this condition is emerging. Common findings on prenatal ultrasound include intrauterine growth restriction, ventriculomegaly, cleft lip or palate, and renal anomalies. These findings can provide a clue toward the prenatal diagnosis of this condition. There is also a clearly recognizable phenotype at birth. Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, cleft lip/palate, ear anomalies, and micrognathia. The exact extent of the isochromosome does not seem to predict severity, but mosaic cases are less severe, or at least have a greater probability of survival.

Abnormalities, Multiple↗
PubMed2002

Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.

We describe a girl who had been followed since birth for apparent Shprintzen-Goldberg syndrome (SGS), with macrosomia, long fingers and toes, and craniosynostosis, and presented at 4 years of age with bilateral Wilms tumors (also called nephroblastoma). Cytogenetic analysis of her peripheral blood revealed a de novo supernumerary marker chromosome. This stable marker chromosome is present in 19 of 20 lymphocytes analyzed, as well as in all 40 tumor cells (20 from each tumor) studied. Classical and molecular cytogenetic studies indicate that the marker is derived from an inverted duplication of chromosome 15q25.3 --> qter and contains a neocentromere. The presence of this marker chromosome in our patient results in tetrasomy 15q25.3 --> qter. The relationship between her genotype and phenotype are discussed in light of genes, including IGF1R and FES, mapped to the aneusomic segment.

Abnormalities, Multiple↗
PubMed2002

Hyponatraemia in hip fracture patients.

We performed a retrospective review of hyponatraemia in patients with hip fractures, before and after surgery. All patients admitted with fractures of the neck of femur who had a surgical intervention to deal with the fracture were included. Results were determined using two definitions for hyponatraemia. The incidence of pre-operative and post-operative hyponatraemia were both 2.8% if hyponatraemia was defined as [Na] < 130 mmol/l. No cases of hyponatraemia were found pre-operatively when hyponatraemia was defined as [Na] < 125 mmol/l. Using this definition the post operative incidence of hyponatraemia was 0.93%. The incidence of hyponatraemia in this group of patients is small. However the potentially severe affects of hyponatraemia warrant close monitoring of these patients and the establishment of methods to prevent this problem from occurring.

Aged↗
PubMed1999

Limb deformations in oligohydramnios sequence: effects of gestational age and duration of oligohydramnios.

In order to study the pathogenesis of prenatal deformities, we reviewed maternal histories, delivery records, pathology reports, radiographs, and photographs of 90 fetuses with prenatally documented oligohydramnios at gestational ages from 14 weeks to term. The causes of oligohydramnios included premature rupture of membranes (44 cases), fetal renal insufficiency (25 cases), idiopathic (15 cases), and twin-twin transfusion (6 cases). The fetuses were grouped according to gestational age at delivery and duration of oligohydramnios. Sixty-three fetuses (70%) had documented contractures. As expected, contractures were more frequent with earlier onset and longer duration of oligohydramnios. During the 2nd trimester, the frequency of contractures in fetuses with oligohydramnios was 77% compared to 52% in the 3rd trimester (chi(2) = 5.33, 1 df, P =.02). Considering all gestational ages together, 57% of fetuses had contractures after less than 2 weeks of oligohydramnios compared to 81% of fetuses with a longer duration of oligohydramnios (chi2 = 6.23, 1 df, P <.02). The type of contracture varied with gestational age. Clubfoot was the most frequent at all ages, but hand contractures such as camptodactyly were common only in the 2nd trimester while the broad flat hand originally described in Potter sequence was found almost exclusively in the fetuses with oligohydramnios in the 3rd trimester. Of the 63 fetuses with oligohydramnios and contractures, 25 (40%) had either additional malformations or family history that could explain contractures independent of oligohydramnios.

Abruptio Placentae↗
PubMed1999

Salvage and reconstruction of complex post-extirpative knee wounds: a successful surgical protocol.

Six patients with massive post-extirpative wounds of the knee, all of whom had received adjuvant therapy, underwent wound closure and limb salvage via free-tissue transfer in all but one case. No instance of delayed wound healing requiring surgery occurred among the patients reconstructed by microsurgical tissue transfer. Five of the six patients are presently ambulating on the salvaged extremity. A protocol for management of these complex wounds is presented.

Amputation, Surgical↗
PubMed1997

Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case.

We describe a patient who was born with flexion contractures and pterygia at the elbows, clubfeet, torticollis, and several rib fractures. During infancy and childhood, multiple fractures of the lower limbs occurred with minimal trauma and led to disabling deformities. When evaluated at age 19 years, he was normally intelligent, but extremely short, with severe kyphoscoliosis compromising his pulmonary function. Pterygia limited elbow extension to 90 degrees, and severe lower limb deformities prevented ambulation. He did not have blue sclerae, dentinogenesis imperfecta, or hearing loss. X-ray studies showed demineralized bones, severe deformity and cystic change at old fracture sites, and vertebral wedging. Collagen studies on skin fibroblasts were normal.

Abnormalities, Multiple↗
PubMed1997

The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was used to enumerate the number of interphase cells containing the isochromosome. The results of these studies illustrate the importance of the use of interphase FISH to detect the presence of the i(12p) in uncultured, non-dividing cells. A review of the literature identified 23 additional cases of Pallister-Killian syndrome diagnosed prenatally. Approximately 50 per cent of these cases were associated with the presence of a congenital diaphragmatic hernia. We suggest that a perinatal-lethal form of Pallister-Killian syndrome is underdiagnosed and recommend that all cases of prenatally detected diaphragmatic hernia be tested for Pallister-Killian syndrome using interphase FISH on uncultured amniocytes.

Abnormalities, Multiple↗
PubMed1996

The floating harbor syndrome with cardiac septal defect.

The Floating Harbor syndrome of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with cardiac anomalies, except for one patient with pulmonic stenosis. We report on a 10-year-old boy with the syndrome and tetralogy of Fallot with atrial septal defect.

Abnormalities, Multiple↗
PubMed1996

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

Pitt-Rogers-Danks syndrome (PRDS) is a rare, presumed autosomal recessive, syndrome with pre- and postnatal growth retardation, microcephaly, characteristic facial appearance, seizures, unusual palmar creases and developmental delay. Since the first description in 1984, only 7 cases have been reported. We report the identification of a 4p microdeletion in 2 new patients, who were previously diagnosed with PRDS, as well as the sibs in Pitt et al. [1984]. PRDS can no longer be considered autosomal recessive. Although our cases are attributable to a microdeletion in 4p16, it is uncertain if the critical region involves a single locus or multiple loci or to what extent this region overlaps with the critical region for Wolf-Hirschhorn syndrome.

Abnormalities, Multiple↗
PubMed1996

Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?

A chromosomally normal brother and sister shared a lethal pattern of anomalies including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. These findings are not consistent with any previously recognized syndrome and represent a new condition with probable autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1995

Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.

Molecular cloning of a microdissected small accessary ring chromosome 4 from a moderately retarded and dysmorphic patient has been performed to identify the origin of the ring chromosome. FISH was performed with cosmids identified with the cloned, microdissected products and with other markers from chromosome 4. The present study clearly demonstrates that the small ring in this patient originates from three discontinuous regions of chromosome 4: 4p13 or 14, the centromere, and 4q31. It is suggested that the origin of the ring chromosome is a ring involving the entire chromosome 4, which has then been involved in breakage and fusion events, as a consequence of DNA replication generating interlocked rings. A second severely retarded and dysmorphic patient also had a small accessary ring derived from chromosome 4. FISH studies of this ring are consistent with an origin from a contiguous region including the centromere to band 4q12. It is apparent that there are at least two mechanisms for the formation of small ring chromosomes. This adds a further complication in any attempt to ascertain common phenotypes between patients known to have morphologically similar markers derived from the same chromosome.

Adult↗