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L B Holmes

Publications and source records attributed to L B Holmes.

At least 145 records · Page 8Linked to original sources
PubMed1983

The incidence and significance of birthmarks in a cohort of 4,641 newborns.

An unselected cohort of 4,641 newborns was ascertained prospectively for the purpose of detecting any cutaneous lesion. These were catalogued into pigmented lesions, vascular lesions, and miscellaneous lesions. Several important findings were elucidated: congenital nevocellular nevi are speckled at their borders; no white newborn in the study had more than one café au lait mark; a hypopigmented tuft of hair was seen in one infant with tuberous sclerosis but is found more commonly in normal individuals; a previously undescribed lesion called zosteriform melanocytic nevus was seen as a normal pigmentary variant in blacks; and hypopigmented macules seen at birth are seen primarily in normal infants. It is hoped that these findings will allow the pediatrician and dermatologist to offer more meaningful prognostic information to their patients.

Alopecia↗
PubMed1982

Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome).

Osteodysplasty (Melnick-Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now been described in 24 individuals, with a predominance of females (21:3). We report an affected woman who gave birth to a male infant with omphalocele, hypoplastic kidneys, and the skeletal changes of this disorder; he died soon after birth. Histologic studies of the calvaria and long bones showed normal maturational sequences, but suggest that remodeling was not normal. This is the second known instance of a male infant with omphalocele and this skeletal dysplasia born to a woman with MNS. We suggest that the gene for the MNS may also cause a syndrome of multiple abnormalities that can be lethal and that this more severe phenotype in males may account for the altered sex ratio among reported cases. Both X-linked dominant and autosomal-dominant sex-limited inheritance are feasible interpretations of the existing information.

Abnormalities, Multiple↗
PubMed1981

Vaginal spermicides and congenital disorders.

Among 763 liveborn infants of white women who had obtained a vaginal spermicide in the ten months before conception, the prevalence of certain major congenital anomalies was 2.2%. The prevalence of such anomalies in a comparison group of 3,902 infants was 1.0%. The difference between these groups was due to an excess of limb-reduction deformities, neoplasms, syndromes associated with chromosomal abnormalities, and hypospadias in the infants whose mothers are presumed to have used vaginal spermicides. Pregnancies in women who had used vaginal spermicides ended in spontaneous abortion requiring hospitalization 1.8 times more commonly than did pregnancies in those who had not. Since a well-defined syndrome among babies with congenital disorders whose mothers used spermicides was not present, these results should be considered tentative until confirmed by other data.

Abnormalities, Drug-Induced↗
PubMed1981

Nonenzymatic hydroxylations of proline and lysine by reduced oxygen derivatives.

The biosynthesis of trans-3- and trans-4-hydroxyprolines and 5-hydroxylysine in animal cells requires polypeptide proline or lysine, enzymes and cofactors including iron, and possibly involves peroxidatic intermediates. Several laboratories have reported the presence of low-molecular-weight hydroxyproline and hydroxylysine peptides in cell and organ cultures. We found that these small peptides contained the trans-3 and cis-4 isomers of hydroxyproline as well as trans-4 ones and that their production was not completely inhibited by alpha, alpha-dipyridyl, and iron chelator and effective inhibitor of enzyme-mediated hydroxylations. It is known that oxygen or hydrogen peroxide in the presence of metal can hydroxylate proline and other aromatic compounds. We show here that reduced oxygen derivatives can hydroxylate both free and polypeptide-bound proline and lysine, and that scavengers of hydroxyl radicals suppress, but do not completely inhibit, this reaction. Reduced oxygen derivatives can be generated in normal and pathological circumstances, and some of the low-molecular-weight hydroxyproline and hydroxylysine peptides found in cell and organ cultures might be derived from these derivatives and therefore do not reflect collagen turnover, but rather some other cellular activity.

Free Radicals↗
PubMed1981

The Wagner-Stickler syndrome: a study of 22 families.

The Wagner-Stickler syndrome is a hereditary progressive arthro-ophthalmopathy with an autosomal dominant pattern of inheritance. Affected persons may have a wide variety of ocular, orofacial, and skeletal problems. We examined 22 index patients and 68 of their relatives. Of these 90 persons (41 in the pediatric age group), 70 were found to have the syndrome. We determined the frequency of the various problems and identified several progressive features. We established an approximate age of onset in the group with known retinal disease and in the asymptomatic group identified by family screening. Although the latter group was initially more mildly affected, they were at risk to develop serious ocular problems. Screening all relatives of affected persons for nonocular features of the syndrome should permit early diagnosis in the asymptomatic group and improve the long-term prognosis.

Abnormalities, Multiple↗
PubMed1980

The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis.

An infant with the clinical syndrome of multiple joint ankyloses and facial anomalies was examined at autopsy. Neuropathologic analysis disclosed reduced numbers of spinal motor neurons and denervation atrophy of skeletal muscle as the basis for joint ankyloses. A comparison of the neuropathologic findings in this case to those to other clinically similar cases reported recently confirms that the phenotype is not specific, and occurs in a variety of neuro-muscular diseases only some of which are likely to be inherited as an autosomal recessive trait. Diagnostic evaluation of these disorders should include both chromosomal analysis and confirmation of the underlying pathologic process.

Ankylosis↗
PubMed1980

Wilms tumor in five cousins.

Wilms tumor developed in five cousins in a family. Two with bilateral tumors have died, but three with unilateral lesions have survived. None of the patients had associated chromosome defects, aniridia, hemihypertrophy, or other anomalies. The pattern of Wilms tumor in the family is consistent with several postulated mechanisms of inheritance of the neoplasm, and shows that relatives within affected families may be at risk.

Aged↗
PubMed1980

The Down syndrome.

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Down Syndrome↗
PubMed1980

A clinical syndrome associated with 5p duplication and 9p deletion.

We have evaluated a sister and brother with a similar pattern of malformations and death in early childhood associated with partial duplication chromosome 5p and possibly deletion of 9p. The father and the brother and several paternal relatives are carriers of the balanced translocation t(5;9) (p13;p22). The malformations which the two have in common are: prominent forehead, flat nasal bridge, long thin fingers, bilateral equinovarus deformity of the feet, diaphragmatic hernia and kidney malformations. The children died at ages 4 months and 27 months, the latter showing marked psychomotor retardation. The chromosome abnormalities, clinical history, and phenotypic features of our patients are similar to the case reported by Monteleone et al (1976). The findings in our patients and Monteleone et al. (1976) are not similar to those in other reported cases of partial and complete 5q duplications, perhaps because the others do not have partial deletion of 9p.

Abnormalities, Multiple↗
PubMed1979

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: a study of four individuals in two families.

We have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rcp t(1;18) (q42;p11). The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities. Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.

Abnormalities, Multiple↗