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Biomedical subjects

D Bixler

Publications and source records attributed to D Bixler.

At least 91 records · Page 5Linked to original sources
PubMed1977

On the classification of the acrocephalosyndactyly syndromes.

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease. From the observations made in this family and from previous reports in the literature, we feel there is substantial reason to re-evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.

Abnormalities, Multiple↗
PubMed1977

The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis.

Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome. Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non-affected family members. Furthermore, three normal-appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS types.

Acrocephalosyndactylia↗
PubMed1977

Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.

This report describes and discusses the very rare occurrence of two heritable traits, the Saethre-Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt-losing type) in a female infant whose father presents the clinical manifestations of Saethre-Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.

Acrocephalosyndactylia↗
PubMed1977

Facio-cardio-renal syndrome: a newly delineated recessive disorder.

A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.

Abnormalities, Multiple↗
PubMed1977

Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations.

Six of 41 presumed cases of Van Buchem disease described in the literature fit uniform diagnostic criteria. Segregation analysis of these 6 cases, in addition to another the authors report, supports a recessive mode of inheritance. Genetic heterogeneity is confirmed by the demonstration of a dominantly-inherited phenotype resembling Van Buchem disease. The probable etiology is a defect in the endochrondral modulatory step regulating transformation of osteoclast to osteoblast.

Adult↗
PubMed1977

Oral manifestations of acute leukemia in children.

Seventy-seven children with acute leukemia were examined. A wide spectrum of oral findings was observed as the consequence of direct leukemic infiltration of tissue, infection resulting from bone marrow and immunosuppression, impaired healing responses, and poor oral hygiene. Guidelines for dental treatment are provided.

Adolescent↗
PubMed1977

The oral-facial geneticist: his training and role in dentistry.

There is a great need today for clinical geneticists who can diagnose hereditary malformation complexes and counsel afflicted patients and their families. The vast majority of these heritable syndromes have significant expression in the oral-craniofacial complex. This paper describes the minimal qualifications and training needed by postgraduate dentists to function as oral-facial geneticists. The oral-facial geneticist is defined as a human geneticist who has special interest and training in diseases of the oral-facial complex. In addition to patient care and consultation, persons with such training may make important contributions to teaching and research in cranio-facial growth and development.

Curriculum↗
PubMed1977

Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect?

Acrocephalosyndactyl (ACS) describes a group of diseases with craniofacial anomalies resulting from premature sutural craniosynostosis and hand and foot anomalies consisting principally of brachydactyly, syndactyly, and polydacytly. Although considerable phenotypic overlap exists, these syndromes are considered by most investigators to be the result of different (although possibly allelic) genes. This report describes the clinical and roentgenologic manifestations in a family wit acrocephalosyndactyly (ACS) showing considerably variation in phenotype. Two different types of ACS were clinically identified in this single family. The proband presented with the classic stigmata of Pfeiffer syndrome while her cousin was considered to be a typical case of Apert syndrome. Further family study revealed that, in addition to these two individuals, seven other family members also have unusually shaped heads and have the facial appearance remiscent of Crouzon disease. Hand and foot anomalies were seen clinically in some but not all of these individuals. From the observations made in this family and from previous reports in the literature, we feel that there is a substantial reason to reevaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.

Acrocephalosyndactylia↗
PubMed1977

Serum alkaline phosphatase: normal values by sex and age.

We report here the normal range of serum alkaline phophatase activity as measured by the method proposed by Hausamen et al. [Clin. Chim. Acta 15, 241 (1967)] with a much larger sample size than used in previous investigations. In the statistical analysis the sample population is subdivided by sex and age, two variables which are known to influence enzyme activity. No statistically significant influence of blood type on enzyme activity was observed. The normal range of enzyme activity is reported in percentiles.

Adolescent↗
PubMed1976

Periodontosis: a phenotypic and genetic analysis.

Two families who provide additional data concerning the metabolic, radiographic, and clinical parameters of periodontosis are presented. These findings include decreased serum alkaline phosphatase levels with absent liver isozyme fractions, decreased tubular bone over-all width and medullary space with relatively increased cortical area, and at least one case of primary dentition alveoloclasia with no permanent dentition alveoloclasia. In addition, a segregation analysis was performed on these two families and all completely reported families found in the literature. The results indicate that periodontosis is most probably inherited as an X-linked, dominant trait with decreased penetrance but relatively consistent gene expressivity. The female: male ratio of affected persons is approximately 2:1, and there is an over-all deficiency of males in these affected families.

Female↗
PubMed1976

Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.

The present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bilateral prehelical pits: (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso-embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way.

Abnormalities, Multiple↗