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Biomedical subjects

D D Weaver

Publications and source records attributed to D D Weaver.

At least 91 records · Page 5Linked to original sources
PubMed1982

Prader-Willi syndrome: are there population differences?

A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome. There is an apparent paucity of blacks reported with this condition. Whether this difference is a true difference or represents under-reporting is not known. We urge reporting of individuals representing other racial groups with this disorder and suggest population studies to determine the incidence as well as the true population difference in the Prader-Willi syndrome.

Adolescent↗
PubMed1982

Differential intracranial pressure in patients with unilateral mass lesions.

Four patients with unilateral mass lesions are presented in whom bilateral supratentorial subarachnoid pressures were continuously recorded. A significant pressure differential between the ipsi- and contralateral side was documented in each case. The possible relationship of this phenomenon to various factors involved in producing increased intracranial pressure, including cerebrospinal fluid flow dynamics, vascular reactivity, elasticity, and brain tissue pressure, are discussed. This study suggests that supratentorial subarachnoid pressure should be measured ipsilateral to the site of a focal mass lesion.

Adult↗
PubMed1981

Prenatal diagnosis--a compilation of diagnosed conditions.

This article provides physicians with an up-to-date listing of 182 fetal conditions diagnosed prenatally. This information is presented in two key tables: the first an alphabetical listing of the conditions and the second a grouping of them according to disease categories. The latter table also presents the technique(s) used to establish the diagnosis, as well as pertinent references. Chromosomal abnormalities, diagnosed from amniotic fluid cell karyotypes, have not been individually tabulated in either table. Current techniques utilized for prenatal diagnosis are presented (see Comment).

Female↗
PubMed1981

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

We have observed an apparently new, heritable syndrome consisting of severe microcephaly, microphthalmia, falciform retinal folds, and blindness. Two brothers were affected with these problems. The mother, while she has no ocular malformations, has severe microcephaly and mild mental retardation. The only other offspring of the parents, a boy, is normal. Laboratory evaluation of the affected sibs was uninformative. An environmental cause of this condition has been sought, but none has been identified. Possible modes of inheritance include autosomal dominant inheritance with variable expressivity, X-linked recessive inheritance with partial expression in the mother, or autosomal recessive inheritance that is etiologically unrelated to the mother's microcephaly.

Abnormalities, Multiple↗
PubMed1981

Study of two cases of ring 13 chromosome using high-resolution banding.

The chromosomes of two patients with ring 13 (r13) were studied using high-resolution RBG banding of prometaphase cells. The rings of the two patients differ slightly in breakpoints. Cell with multiple single, double-sized rings, quadruple-sized rings, rod- and ring-shaped fragments, and fragments showing varied states of condensation were seen, as were cells monosomic for chromosome 13. The evolution of these cell lines as a result of sister chromatid exchange, nondisjunction, ring breakage, and premature chromosome condensation is discussed. Clinical features of these patients reflect the heterogeneity of phenotype for r13 patients. Each case includes a feature of trisomy 13. The significance of mosaicism of cell lines in patients bearing ring chromosomes is considered with respect to variation in clinical findings.

Abnormalities, Multiple↗
PubMed1981

The axial mesodermal dysplasia spectrum.

Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a number of other individuals have been reported with Goldenhar or related syndromes who have malformations in the caudal region or, conversely, who have the caudal regression syndrome and possess cranial anomalies. Possible explanations for the commonality of malformations seen in these syndromes are presented and discussed. It is suggested that the term, "axial mesodermal dysplasia spectrum" be used in patients manifesting this overlap to emphasize the importance of searching for the other malformations seen in this spectrum of anomalies.

Abnormalities, Multiple↗
PubMed1981

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.

Child↗
PubMed1980

Familial variation of head size and adjustment for parental head circumference.

Occipitofrontal head circumference was measured on 122 twin pairs, their spouses, and their children. These data indicate that approximately 50% of normal head size variation is familial. Because of the relationship between the head size of normal children and their parents, adjustment of a child's head size value by the average parental value permits better definition of the range of normalcy. A method is presented that will allow physicians to make this adjustment, providing a more refined assessment of head size when there is a suspected abnormality.

Adolescent↗
PubMed1980

Failure of X inactivation in the autosomal segment of an X/A translocation.

A newborn with an X/A translocation (46,X,der X,t(X;17)(17pter leads to 17p13::Xp22 leads to Xqter) demonstrated multiple anomalies. X-replication studies in leukocytes of the patient with RBG (R Bands by BrdU using Giemsa stain) showed the abnormal X,t(X;17), to be late replicating except for the translocated segment. Clinical findings and replication studies suggest failure of inactivation of the translocated segment.

Abnormalities, Multiple↗
PubMed1978

Aarskog syndrome. New findings and genetic analysis.

A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis of published pedigrees, the data strongly support an X-linked recessive mode of inheritance.

Abnormalities, Multiple↗
PubMed1978

Femoral hypoplasia-unusual facies syndrome, from another viewpoint.

A female infant with the "femoral hypoplasia-unusual facies" syndrome is presented. Most of the findings observed in this child have also been described in the "caudal regression syndrome". The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.

Abnormalities, Multiple↗
PubMed1978

Multiple pterygium syndrome.

After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.

Adult↗
PubMed1978

Phenotypic and genetic analysis of the silver-Russell syndrome.

A family is reported in which two half-siblings present clinical findings suggestive of the Silver-Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.

Child, Preschool↗
PubMed1978

The facio-genito-popliteal syndrome.

In summary, we have presented data supporting the variable expression of an autosomal dominant gene that produces a spectrum of facial, genital, and musculo-skeletal abnormalities. We are not in the position to completely rule out genetic heterogeneity but on the basis of the data presented we feel confident in stating that the popliteal pterygium syndrome, in most cases, is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.

Child↗
PubMed1977

The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome.

We describe a family in which seven pregnancies resulted in four infants who died and in three abortions. During these pregnancies the mother took trimethadione (Tridione), as well as other anticonvulsants. Two normal children were born after treatment with all medications were stopped. There have now been 53 reported pregnancies in which the fetuses were exposed to trimethadione or paramethadione; 48 (87%) resulted in fetal loss or a child born with congenital malformations. The most common defects include malformed ears, cleft palate, cardiac defects, urogenital malformations, and skeletal abnormalities. Delayed mental and physical development were also seen. These findings constitute a clinical entity termed the fetal trimethadione syndrome. The malformation rate is believed to be due to the teratogenic effects of trimethadione. Physicians need to be aware of the danger of trimethadione and related drugs during pregnancy and should withhold these medications during this period.

Abnormalities, Drug-Induced↗
PubMed1977

A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.

A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested.

Adolescent↗
PubMed1976

Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Abnormalities, Multiple↗