PubMed Health⌕ Search

Biomedical subjects

D D Weaver

Publications and source records attributed to D D Weaver.

At least 19 recordsLinked to original sources
PubMed1991

Weaver syndrome: a case without early overgrowth and review of the literature.

A female child with Weaver syndrome is described. She did not show the excessive growth characteristic of this syndrome until after adequate caloric intake was achieved by feeding through a gastric feeding tube. Her inadequate nutrition was a result of feeding difficulties during infancy. In addition, she had recurrent pulmonary infections, apneic spells, and severe developmental delay. She died at 16 months of sepsis, congestive heart failure, and respiratory arrest. The autopsy revealed marked atrophy of the brain and cardiac ventricular hypertrophy. Most of the brain changes were thought to be from hypoxia.

Congenital Abnormalities↗
PubMed1990

Bone dysplasias: the prenatal diagnostic challenge.

The prenatal diagnosis of bone dysplasias presents difficult challenges for the clinician involved in monitoring pregnancies. Such diagnoses highlight delicate ethical issues and may require difficult decision-making when the differential diagnosis includes a lethal bone dysplasia. Despite the rapid technological advances in ultrasonography, the ability to make prenatal diagnoses within this group of disorders is limited by the restricted ultrasonographic capability to appreciate fully the detailed fetal anatomy. However, we perceive that a significant further limitation involves the lack of a systematic protocol to guide the clinician in the ultrasonographic evaluation of a fetus suspected of having a skeletal dysplasia. In an attempt to aid the clinician who is evaluating these suspected pregnancies, we report here 8 cases and propose a model protocol for the ultrasonographic diagnostic approach to fetal skeletal problems in utero.

Adolescent↗
PubMed1990

Fetal brain disruption sequence.

The fetal brain disruption sequence is a recognizable pattern of defects that includes moderate to profound microcephaly, overlapping sutures, occipital bone prominence, and scalp rugae. The condition is postulated to arise from partial brain disruption during the second or third trimester with subsequent fetal skull collapse resulting from decreased intracranial hydrostatic pressure. Proposed causes include prenatal viral or parasitic infections and vascular disruptions. We report seven infants with the fetal brain disruption sequence. Two of these patients died. A changing phenotype with time was seen in three. Recognition of this phenotype is critical because the condition has a uniformly poor prognosis for infants but the recurrence risk in future pregnancies is low.

Abnormalities, Multiple↗
PubMed1990

Unilateral duplication of the cerebellar hemisphere and internal, middle, and external ear: a clinical case study.

This article presents the unique congenital anomaly complex of ipsilateral cerebellar hemisphere duplication and internal, middle, and external ear duplication. Diagnostic techniques included a head CT scan, a three-dimensional head CT scan, and a head MRI. An aberrant notochordal split was proposed as the embryologic mechanism leading to the development of such anomalies.

Abnormalities, Multiple↗
PubMed1990

A morphometric analysis of the fetal craniofacies by ultrasound: fetal cephalometry.

We present here a set of 24 standardized linear measurements that describe the growth of different craniofacial structures in the normal fetus from 16 to 36 weeks of gestation. These measurements were taken from 89 pregnant women, who had from 1 to 3 ultrasonographic evaluations during the pregnancy (16, 26, and 36 weeks of gestation). All the values presented here were obtained using the technique described by Escobar et al. The mean and standard deviation was calculated for each measurement and was used to estimate the normal growth pattern of each variable. Approximate confidence intervals for the mean of each variable were constructed for use in identifying unusually low or high values. The confidence intervals are available in graphic form by request. These data will not only contribute to an understanding of fetal craniofacial growth and development in utero, but in addition, it will help to make the diagnoses of mild craniofacial anomalies that would not be detected by the routine ultrasonographic examination. We suggest that this procedure should be included if not in all routine obstetrical ultrasound evaluations, then at least in the more extensive level II obstetrical ultrasound.

Cephalometry↗
PubMed1989

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

Abnormalities, Multiple↗
PubMed1989

Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?

We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.

Abnormalities, Multiple↗
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↗