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Biomedical subjects

D D Weaver

Publications and source records attributed to D D Weaver.

At least 55 records · Page 3Linked to original sources
PubMed1988

Neural tube defects and omphalocele in trisomy 18.

A trisomy 18 fetus with severe congenital anomalies including craniorachischisis, large omphalocele, and bilateral cleft lip and palate is reported. The occurrence of neural tube defects and/or omphalocele in reported cases of trisomy 18 is discussed and the frequency of these anomalies in 85 trisomy 18 patients evaluated at Indiana University School of Medicine from 1963 to 1986 is reviewed. In this series of patients the frequency of neural tube defects was 7.0% and the frequency of omphaloceles was 5.9%. The percentage of these findings in our cases supports the premise that neural tube defects and omphaloceles are part of the trisomy 18 phenotype. Since fetuses with trisomy 18 are subject to early fetal loss or premature birth, the more subtle physical features of this condition may not be apparent. Thus, karyotyping of fetuses and premature infants with either neural tube defect or omphalocele should be considered.

Abnormalities, Multiple↗
PubMed1988

Fetal craniofacial morphometrics: in utero evaluation at 16 weeks' gestation.

Although ultrasound has proved useful in the diagnosis of fetal craniofacial malformations, its success has been based primarily on subjective clinical observations of apparent abnormal fetal structures, their proportions, and unusual features. However, such clinical observations may be misleading and ideally should be validated by standardized quantitative measurements. We describe here an ultrasonographic methodology that has provided quantitative data describing the normal fetal craniofacies at 16 weeks of gestation. This report is part of an ongoing research project directed at describing fetal facial morphology in utero at different gestational ages. Such data can be used to construct growth curves to which observations from suspected abnormal fetuses can be compared. A total of 53 patients were evaluated at 16 weeks of gestation, at which time 24 craniofacial linear and angular measurements were made. The landmarks employed for these measurements were those used in roentgencephalometry so that this fetal data base could be related to postnatal populations. Such data will contribute not only to a description of facial dysmorphogenesis but also to a better understanding of normal facial growth and development. Furthermore, they constitute a useful tool for prenatal diagnosis, gestational aging, growth predictions, and perhaps for as yet relatively unexplored fields such as fetal therapy.

Facial Bones↗
PubMed1987

Urorectal septum malformation sequence. Report of six cases and embryological analysis.

We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence.

Anus, Imperforate↗
PubMed1987

Presymptomatic testing for Huntington chorea: guidelines for moral and social accountability.

Clinical trials of a presymptomatic test for Huntington chorea (HC) are beginning, and the test may set precedents in screening for other genetic disorders in this way. Therefore, it seems an opportune time to consider the moral and social implications of such testing. The strategy proposed here takes the form of guidelines for research, development, and clinical application of the HC test and any future similar tests. The guidelines cover four stages (preliminary research, verification, refinement, and clinical application). They draw on past experience, on existing guidelines for research involving human subjects, and on some general moral and legal principles. In addition to traditional concerns about relationships between counselors and consultants, they emphasize more contemporary concerns about the interests of third parties and social institutions in what occurs in modern methods of genetic screening. In all cases, however, the guidelines are provisional and are offered here mainly for purposes of discussion and to encourage similar efforts at policymaking by those who become involved with these forms of testing.

Age Factors↗
PubMed1987

A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency.

We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.

Abnormalities, Multiple↗
PubMed1986

The VATER association. Analysis of 46 patients.

Evaluation of 46 patients with the VATER association indicates that in addition to the major defects seen in this association, numerous other abnormalities occur at lesser frequency. Four of the defects that are not usually associated with the VATER association, namely, inguinal hernias, small intestinal malformations, choanal atresia, and cleft lip and/or palate, were seen at a relatively high frequency in this patient population. Two children possessed defects found in both the VATER and CHARGE associations. The spectrum of defects in the 46 patients in this study also is compared with that in 186 cases derived from the literature.

Abnormalities, Multiple↗
PubMed1986

Analysis of growth in the VATER association.

Analysis of growth in 31 patients with the VATER association showed that 14 (45%) of these patients experienced postnatal growth deficiency (greater than -2 SDs) for at least the first three years of life or beyond. The other 17 patients (55%) had growth that fell within the normal range but which was usually less than the 50th percentile during at least the first three years of life. Severe cardiac defect was present in nine (64%) of the growth-deficient patients and was the only defect that was significantly correlated with growth deficiency. No explanation for the deficiency in growth in the other five children was found. When growth deficiency was present, it was of postnatal onset.

Abnormalities, Multiple↗
PubMed1986

Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.

Cranial Nerves↗
PubMed1986

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature.

The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia. Twenty-two cases of WBS were examined clinically and cytogenetically, and compared to 226 previously reported cases. Aspects of the clinical evaluations are discussed. All individuals examined were chromosomally normal with no evidence of 11p abnormality as has been reported recently. The relevance of a possible relationship between clinical findings, chromosome abnormalities, and genes present on 11p is discussed. Transmission of this condition is most consistent with autosomal dominant inheritance with incomplete penetrance.

Adolescent↗
PubMed1985

Congenital contractural arachnodactyly. Report of four additional families and review of literature.

We report here four families with congenital contractural arachnodactyly (CCA) in which a wide range of phenotypic expression is observed. In one family with a large number of affected individuals the condition is mildly expressed. These individuals usually have crumpled ears, camptodactyly with ulnar deviation of the fingers, adducted thumbs, limited elbow and/or knee extension, and hypoplasia of the calf muscles. Arachnodactyly is not a constant feature. No spinal deformities are present and only the proband has clubfoot deformities. With time, affecteds have experienced spontaneous improvement of their contractures and their condition in adulthood has not interfered with a normal lifestyle. Within this family there is little phenotypic variation between affected individuals. Those affected within each of the other families have had varying degrees of severity of the condition. A review of 29 other kindreds described in the literature with congenital contractural arachnodactyly shows that in this condition the most common features are abnormally formed ears, camptodactyly, arachnodactyly, adducted thumbs, limited movement of the elbows and knees, and underdevelopment of the calf muscles. Spontaneous improvement of the contractures with age is reported in 94% of cases. Kyphosis, scoliosis or kyphoscoliosis occurred in 50% and these defects were present in those who where more severely affected with CCA. No ocular problems have been reported in this syndrome, but congenital heart defects have occurred in 14.7%. Marfan syndrome is the most important condition to differentiate from congenital contractural arachnodactyly since these two conditions are similar phenotypically. However, in the former there are frequently serious ocular and cardiovascular problems which lead to significant morbidity and/or early death.

Adolescent↗
PubMed1984

Familial startle disease (hyperexplexia). Electrophysiologic studies.

Six affected members from a family of 15 patients with familial startle disease (hyperexplexia) underwent extensive electrophysiologic evaluation. The most marked abnormality consisted of prominent C response 60 to 75 ms after median and peroneal nerve stimulation. The somatosensory evoked responses were also relatively high in amplitude. These findings suggest that hyperactive long-loop reflexes may constitute the physiologic basis of startle disease.

Electric Stimulation↗