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Biomedical subjects

R M Pauli

Publications and source records attributed to R M Pauli.

At least 19 recordsLinked to original sources
PubMed1992

Head circumference of children with Down syndrome (0-36 months)

This study provides statistically appropriate head circumference reference curves for males and females with Down syndrome (DS) from birth to 36 months of age. A total of 239 males and 182 females from five study populations, yielding a combination of cross-sectional and longitudinal data, were used for the analysis. The method of least squares was used to test the fit of the growth model y = a+bx+c[log(x + 1)], where x is age in months. These standardized curves should provide information of value in the medical, physical, and developmental management of children with DS.

Biometry↗
PubMed1992

Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident.

A 7 1/2-year-old girl with arthrogryposis multiplex congenita of the amyoplasia type in association with intestinal atresias, gastroschisis, Möbius anomaly, and hypoplasia of the pectoral, biceps, and deltoid muscles is described. Several combinations of these birth defects have been previously described. There is considerable evidence that gastroschisis, intestinal atresia, Poland sequence, and Möbius anomaly each has a vascular pathogenesis. Based on the associations seen in this child and past reports of more limited, similar cooccurrences, we suggest that arthrogryposis multiplex congenita may sometimes be caused by an intrauterine vascular catastrophe.

Abdominal Muscles↗
PubMed1992

Vesicoureteric reflux in sibships.

A family with 4 of 6 siblings manifesting vesicoureteric reflux is presented. Reflux could not be demonstrated in preceding and succeeding generations in this family. Genetic analysis suggests that most instances of familial vesicoureteric reflux arise secondary to expression of autosomal dominant single genes with incomplete penetrance. Screening of sibships for reflux might be most appropriately carried out by urine analysis, culture and ultrasound imaging.

Child↗
PubMed1991

Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.

Treacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32----p14 was identified. Anonymous DNA sequences of loci D4S18, D4S19, D4S20, D4S22, and D4S23 were mapped to the deleted region. DNA probes previously mapped to loci on chromosome 4p (D4S10, D4S15, D4S16, D4S26, D4S35, D4S95, D4S144, RAF1P1, QDPR, and HOX7) were not deleted in this patient. Linkage analysis between the D4S18, D4S23, and QDPR loci and Treacher Collins syndrome in eight families excluded the Treacher Collins syndrome locus from the region of the deletion.

Chromosome Deletion↗
PubMed1991

Absence of predictable phenotypic expression in proximal 15q duplications.

We describe ten individuals with an insertional duplication 15q12----q13. Phenotypic analysis of these individuals and 15 previously reported cases of proximal 15q duplications fails to show any consistent clinical manifestations. It appears that a duplication of this region is phenotypically silent.

Adult↗
PubMed1991

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Achondroplasia and pseudoachondroplasia are autosomal dominant skeletal dysplasias resulting in short-limbed dwarfism. Histologic and ultrastructural studies of the cartilage in pseudoachondroplasia and in homozygous achondroplasia have suggested a structural abnormality in chondroitin sulfate proteoglycan (CSPG), a major structural protein in the extra-cellular matrix. The gene encoding CSPG core protein (CSPGCP) is thus a logical "candidate gene" for analysis in these conditions. cDNA probes encoding CSPGCP were used to identify restriction fragment length polymorphisms (RFLPs) in DNA from a panel of control individuals. No gross alterations at the CSPGCP locus were noted in DNA from 37 individuals with achondroplasia and 5 individuals with pseudoachondroplasia. In addition, allelic frequencies of the RFLPs were not significantly different among controls and patients with either condition. In one three-generation family with achondroplasia, close linkage of the CSPGCP locus and the skeletal dysplasia was excluded using a Bgl II polymorphism. Similarly, in a three-generation family with pseudoachondroplasia, the CSPGCP gene was not tightly linked to the disease phenotype. These results indicate that mutations at the chondroitin sulfate proteoglycan core protein locus do not cause achondroplasia or pseudoachondroplasia in these families.

Achondroplasia↗
PubMed1990

Fetal disruptions: assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community-based stillbirth assessment program.

The Wisconsin Stillbirth Service Project (WiSSP) is a community-based program for the investigation of the cause of fetal death. From its inception in 1983 through July 1988, 629 referrals were made to WiSSP. All referrals were assessed for the presence of disruptional characteristics, and 23 were found to have major or primary disruptive effects. Most of these were either early amnion disruption/limb-body wall disruption (treated as a single group, since analysis suggests a continuum of clinical characteristics) and twin-twin disruptions. Therefore, disruptions accounted for 3.6% of all referrals (including liveborn and miscarriage referrals) to WiSSP. When only stillborn fetuses are considered, approximately 2.4% appear to have died because of disruptions. This makes disruptions one of the most frequent, identifiable causes of late intrauterine death. We estimate that 0.6-1.4% of all stillborn fetuses die because of early amnion disruption/limb-body wall disruption which, when taken with previous estimates of the frequency of such problems in early miscarriages and liveborn infants, suggests that these disruptions result in a 95% prenatal mortality rate. We suggest a unified model of likely pathogenetic mechanisms which may help explain the continuum of multisystem involvement seen in those with early amnion disruption/limb body wall disruption. In addition, 3 patients with atypical disruptions are reviewed who exemplify the difficulty and importance of differentiating disruptional and malformational processes.

Abnormalities, Multiple↗
PubMed1990

Temperament in Williams syndrome.

Anecdotal reports suggest that children with Williams syndrome are loquacious, affectionate, charming, open, and gentle. The temperament, or behavioral style, of individuals with Williams syndrome was assessed using standard temperament scales of parental response. Children with Williams syndrome appear, on average, to display higher activity, lower rhythmicity, greater approach, lower adaptability, greater intensity, more negative mood, less persistence, greater distractibility, and lower threshold to arousal than will average children. Older children with Williams syndrome will likely be viewed as "difficult." Despite this overrepresentation in the "difficult" cluster, on average, this population differs from the usual population of "difficult" children in being approaching, rather than displaying a tendency to withdraw. Parents of a child with Williams syndrome should be apprised of potentially negative temperament characteristics, relieved of the burden of responsibility for having a difficult child who "should" be easy, and counselled, when appropriate, regarding the efficacy of modification of parent-child interactions with children having the difficult temperament.

Abnormalities, Multiple↗
PubMed1990

Respiratory complications in children with spondyloepiphyseal dysplasia congenita.

Mild respiratory distress at birth is a common occurrence in infants with spondyloepiphyseal dysplasia congenita (SEDC) while severe respiratory insufficiency and death have been reported only rarely. We describe three infants with SEDC who experienced severe respiratory complications and required tracheostomies. Two of these infants have also needed long-term continuous positive airway pressure to maintain adequate ventilation. The features and clinical course of these children are described, previous reports of respiratory complications in SEDC are summarized, mechanisms resulting in respiratory problems in SEDC are postulated, and comparison is made with mechanisms giving rise to respiratory risks in other skeletal dysplasias.

Humans↗
PubMed1990

Obstructive sleep apnea in Apert's and Pfeiffer's syndromes: more than a craniofacial abnormality.

Nine acrocephalosyndactyly type I patients (Apert's syndrome) and three acrocephalosyndactyly type V patients (Pfeiffer's syndrome) were evaluated for the relative importance of upper and lower airway abnormalities in the generation of obstructive sleep apnea. All patients were found to have a combination of upper and lower abnormalities. The influence of lower pathology was greater in the infants, and the influence of upper airway, specifically pharyngeal, was greater in the adults. A comparison between preoperative and postoperative polysomnography revealed little improvement with standard craniofacial advancements. Furthermore, three patients are described who succumbed to pulmonary death despite tracheostomy. Conservative treatment with prone or lateral positioning and medical pulmonary regimens is advocated. Finally, the pathogenesis of this diffuse airway pathology is discussed.

Acrocephalosyndactylia↗
PubMed1990

Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara.

The authors present the radiographic features of a previously incompletely delineated bone dysplasia, which they call spondylometaphyseal dysplasia, corner fracture type. This is a dominant heritable condition associated with short stature and developmental coxa vara. The progressive hip deformity usually causes significant disability requiring surgical correction. Developmental coxa vara, simulated corner fractures of long tubular bones, and vertebral body abnormalities result in a diagnostic constellation. Knowledge of these distinctive radiologic features allows accurate diagnosis, which in turn should lead to appropriate genetic counseling and possibly to earlier, more efficacious surgical treatment of the coxa vara.

Adult↗
PubMed1989

Optic atrophy, hearing loss, and peripheral neuropathy.

Here we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity and early onset of the optic atrophy and in its mode of transmission. Review of published cases of optic atrophy + hearing loss + peripheral neuropathy suggests that there are at least three such specific disorders; classification of these published cases by first-appearing symptom also results in a clean division by most-likely inheritance.

Adult↗
PubMed1989

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome)

We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These three examples confirm the existence of this traid as a specific, pleiotropic, single-gene syndrome. Careful ophthalmologic evaluation of patients with ataxia and hypogonadotropic hypogonadism may identify additional cases.

Adult↗
PubMed1988

Tracheomalacia and bronchomalacia associated with Larsen syndrome.

Bronchomalacia has not previously been described in association with Larsen syndrome. In this article, three children with Larsen syndrome are reported. All three patients have tracheomalacia, and one of them has diffuse bronchomalacia diagnosed at flexible fiberoptic bronchoscopy. The patients' symptoms of airway obstruction include stridor, cyanosis, apnea, and recurrent pneumonias. Recognition of these abnormalities may allow the institution of supportive therapy.

Abnormalities, Multiple↗
PubMed1987

Dominantly inherited renal adysplasia.

We are reporting on 7 families with both unilateral and bilateral renal agenesis (or severe dysplasia). This condition, termed hereditary renal adysplasia (HRA) [Buchta et al, 1973], is an autosomal dominant trait with incomplete penetrance and variable expression. Review of the literature on familial renal agenesis suggests that HRA is more common than previously supposed and may account for most recurrences of bilateral renal agenesis (BRA), even when the parents are normal. There are no consistent phenotypic differences between sporadic and familial renal agenesis. Associated non-urogenital anomalies, although more frequent in sporadic cases, have been reported in HRA. Use of several approaches, including the Weinberg Proband Method, segregation analysis, and empiric risk estimation, leads to the conclusion that autosomal dominant inheritance is the most likely pattern of transmission for most cases of renal agenesis. Penetrance is between 50% and 90%. Ultrasound study of the kidneys of parents, sibs, and other relatives is recommended in all families in which there is an individual with unilateral or bilateral renal agenesis. The empiric risk for recurrence of BRA in sibs has been estimated at 3.5% [Carter, et al, 1979] but in the offspring of affected or obligate heterozygotes for HRA, the empiric risk of bilateral severe renal adysplasia is 15-20%.

Genes, Dominant↗