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Biomedical subjects

L B Holmes

Publications and source records attributed to L B Holmes.

At least 163 records · Page 9Linked to original sources
PubMed1979

The early limb deformity caused by acetazolamide.

Histologic sections were made of the forelimbs of day 10 to 12.5 embryos removed 3, 16, 30, 36, 42, 45, 63 and 75 hours after the intraperitoneal injection of acetazolamide into C57Bl/6J pregnant females. A postaxial deformity was first visible in the right forelimb of day 10.9 embryos 36 hours after the second dose of acetazolamide 1,000 mg/kg on day 9 of gestation. The deformity was a postaxial deficiency of mesenchyme tissue without any evidence of cell necrosis. The deformity was present before aggregation of mesenchyme cells occurs as the first step in chrondrogenesis. The pattern of cell orientation in the adjacent mesenchyme aggregate of a deformed day 12.5 forelimb was normal. This means that the primary effect of acetazolamide is not on the formation of precartilage aggregates in the postaxial region, but involves other aspects of early limb development.

Acetazolamide↗
PubMed1979

Birthmarks with serious medical significance: nevocullular nevi, sebaceous nevi, and multiple café au lait spots.

Birthmarks of potential medical significance were identified among 4,641 newborn infants: 1.1% had a nevocellular nevus and 0.3% had a sebaceous nevus; 1.8% of black infants, but no white infants, had three or more café au lait spots. The large nevocellular nevus is considered premalignant, but the significance of the small nevocellular nevus has not been established. The sebaceous nevus fades after birth but undergoes hyperplasia at puberty. Multiple café au lait spots occur less commonly in white than in black infants, and are therefore of greater concern as possibly an early sign of neurofibromatosis.

Child, Preschool↗
PubMed1979

Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.

A 7-year-old boy with aniridia, Wilms' tumor, and mental retardation, previously reported as having an interstitial deletion of the short arm of chromosome 8 resulting from a t(8p+;11q-) translocation (Ladda et al., 1974), has been restudied using high-resolution trypsin-Giemsa banding of prometaphase chromsomes. The results revealed a complex rearrangement with four break points in 8p, 11p, and 11q, leading to a net loss of an interstitial segment of 11p (region p1407 yields p1304) but not of 8p. His red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogeanse A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings. The revised interpretation of this case agrees with seven others reported as having aniridia and interstitial 11p deletions in establishing the distal half of band 11p13 as the site of gene(s) which lead to aniridia and predispose to Wilms' tumor if present in a hemizygous state. Possible relationships between heterozygous deletion of specific chromosomal bands 11p13 and 13q14 and the autosomal dominant disorders aniridia, Wilms' tumor, and retinoblastoma, respectively, are discussed.

Abnormalities, Multiple↗
PubMed1978

Phenotypic overlap of the BBB and G syndromes.

Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X-linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.

Abnormalities, Multiple↗
PubMed1978

Down syndrome in two of three triplets.

This is the first report to our knowledge of trisomy 21 in two members of a set of triplets. The two with Down syndrome are monozygous; the other triplet is not identical. These triplets were born to a 22-year-old woman in whose family there have been six sets of twins (four like-sex) since 1775. Neither parent has any chromosomal abnormality. Zygosity estimates in the triplets are derived from studies of red blood cell antigens and HLA typing. Twinning has been reported in association with many different chromosome abnormalities. It has been suggested that the incidence of Down syndrome among twins is significantly higher than among singletons. It seems likely that some families have a heritable predisposition to both twinning and chromosome abnormalities.

Chromosome Banding↗
PubMed1978

Infant with abnormal pigmentation, malformations, and immune deficiency.

An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.

Abnormalities, Multiple↗
PubMed1978

Chromosome 6q- and associated malformations.

A dysmorphic retarded fourteen-mont-old female with partial deletion of the long arm of chromosome 6 is presented. The breakpoint in 6q was in region 2, probably at band 5. Eight other infants with a deletion involving the long arm of chromosome 6, including five with a ring chromosome 6, have been reported. The affected individuals have in common microcephaly, micrognathia, hypotonia and psychomotor retardation, but do not appear to have a distinctive phenotype.

Abnormalities, Multiple↗
PubMed1978

Hereditary late-onset lymphedema.

Two different types of hereditary late-onset lymphedema are presented. In one family the father and one son had recurrent streptococcal lymphangitis beginning in childhood. In the son there was lymphatic hypoplasia in both legs with the infection having only occurred in one. Prophylaxis with penicillin prevented the recurrent lymphangitis. Because of 30 years of untreated lymphangitis, the father has chronic severe lymphedema. The second type, lymphedema associated with extra eyelashes (distichiasis) and a wide spinal canal, occurred in a woman whose lymphedema began at age 12 but in whom the hereditary nature of the disorder was not recognized until she was 29. Both of these types of late-onset lymphedema, lymphedema with lymphangitis and lymphedema with distichiasis, are due to autosomal dominant genes. Both families would have benefited from early diagnosis of the cause of the lymphedema.

Adult↗
PubMed1977

The lacrimo-auriculo-dento-digital syndrome.

A mother and son had an autosomal-dominant malformation syndrome that included absence of the lacrimal puncta, obstruction of the nasolacrimal ducts, hearing loss, poor dentition, and abnormal thumbs. The son also had severe hypertension with renal anomalies and absence of several salivary glands. Affected members of the only other reported family also had cup-shaped ears and synostosis of the radius and ulna. Early recognition of this disorder is important because of the possibility that the affected infant may have hearing loss and kidney malformations.

Abnormalities, Multiple↗
PubMed1976

Etiologic heterogeneity of neural-tube defects.

We classified 106 stillborn and live-born infants with anencephaly, meningomyelocele, meningocele and encephalocele according to the recognized causes of these malformations. Six different causes were identified, including both genetic and nongenetic disorders; 12 per cent had nongenetic disorders, a chromosome abnormality, or an encephalocele as part of the autosomal recessive Meckel syndrome. Therefore, for this 12 per cent genetic counseling normally provided for isolated anencephaly, meningomyelocele or encephalocele would have been incorrect. If all infants were considered together regardless of cause, the precurrence and recurrence rates of similar malformations in the sibs were 5.2 and 1.7 per cent respectively. However, if infants with other disorders, especially the Meckel syndrome, were excluded, the precurrence and recurrence rates for isolated anencephaly, meningomyelocele and encephalocele among white infants were only 1.7 per cent and 0 per cent. These rates are much lower than the risk of 5 per cent currently being used in genetic counseling in the United States.

Abnormalities, Multiple↗