Browsing by Author "Meaney, F. John"

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    An Anthropometric Study of 38 Individuals With Prader-Labhart- Willi Syndrome
    (Wiley, 1987-02) Butler, Merlin G.; Meaney, F. John; Opitz, John M.; Reynolds, James F.; Department of Medical and Molecular Genetics, School of Medicine
    Weight, height, sitting height, and 24 other anthropometric variables (5 body circumferences, skinfolds at 7 sites, 4 head dimensions, and 8 hand and foot measurements) were obtained on 38 Prader-Labhart-Willi syndrome (PLWS) individuals (21 with apparent chromosome 15 deletions and 17 nondeletion cases) with an age range of 2 weeks to 38½ years. More than half of these individuals were measured on more than one occasion. The measurements confirmed the presence of short stature, small hands and feet, obesity, and narrow bi-frontal diameter in PLWS. No differences were found for the anthropometric measurements between the 2 chromosome subgroups. Inverse correlations were produced with linear measurements (eg, height, hand and foot lengths) and age, which indicated a deceleration of linear growth relative to normal individuals with increasing age.
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    Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
    (Wiley, 1986-03) Butler, Merlin G.; Meaney, F. John; Palmer, Catherine G.; Medical and Molecular Genetics, School of Medicine
    In a clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome (PLWS) (23 males and 16 females ranging in age from 2 weeks to 39 years), an interstitial deletion of chromosome 15 (breakpoints q11 and q13) was identified in 21 cases and apparently normal chromosomes in the remainder. Studies of parental chromosome 15 variants showed that the del[15q] was paternal in origin, although chromosomes of both parents were normal. All chromosome deletions were de novo events. Possible causes for the chromosome deletion and the role of chromosome rearrangements in individuals with PLWS are discussed. Clinical characteristics of the deletion and nondeletion groups were recorded and compared with 124 individuals reported in the literature. Individuals with the chromosome deletion were found to have lighter hair, eye, and skin color, greater sun sensitivity, and higher intelligence scores than individuals with normal chromosomes. Correlation studies of metacarpophalangeal pattern profile variables and dermatoglyphic findings indicate apparent homogeneity of the deletion group and heterogeneity of individuals with PLWS and normal chromosomes.
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    Craniofacial variation and growth in the Prader-Labhart-Willi syndrome
    (Wiley, 1987-12) Meaney, F. John; Butler, Merlin G.; Medical and Molecular Genetics, School of Medicine
    A study of anthropometric variation and craniofacial growth in individuals with the Prader-Labhart-Willi syndrome (PLWS) illustrates the utility of anthropometry in clinical evaluation and research. Anthropometric measurements, including head length and breadth, minimum frontal diameter, and head circumference, were obtained on 38 PLWS individuals (21 with chromosome 15 deletions) with an age range from 2 weeks to 39 years. No anthropometric differences were found between the two chromosome subgroups. A relative deceleration in the growth of certain craniofacial dimensions (head circumference and length) is suggested by the negative correlations between age and Z-scores for the measurements. Raw values for minimum frontal diameter and head breadth were near or below the 5th percentile curve, while almost all values for head length and circumference fell within normal limits. The data support suggestions that dolichocephaly be considered an early diagnostic feature of PLWS. Furthermore, the status of narrow bifrontal diameter as a major feature of PLWS is confirmed.
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    Letter to the Editor: Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome: An Update
    (Wiley, 1986-08) Butler, Merlin G.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
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    Metacarpophalangeal Pattern Profile Analysis in Clinical Genetics: An Applied Anthropometric Method
    (Wiley, 1986-06) Butler, Merlin G.; Meaney, F. John; Kaler, Stephen G.; Medical and Molecular Genetics, School of Medicine
    The hand is a complex anatomical structure with the component bones susceptible to a combination of environmental and genetic factors that may affect the bone length and width. The alterations may involve a single bone or specific group of bones. The metacarpophalangeal pattern profile (MCPP) developed by Poznanski, Garn, and others (Poznanski et al. Birth Defects VIII (5): 125–131, 1972) is a graphic representation of the relative lengthening and shortening of the 19 tubular bones of the hand useful for diagnosis, comparison of dissimilar patients, and gene carrier detection. The profile hand bone measurements are derived from posteroanterior hand radiographs and are standardized for age and sex. Specific profiles have been developed for several syndromes. Therefore, MCPP analysis has developed from a method of describing changes in the hand to a technique useful in assigning a diagnosis to a specific syndrome and evaluation of skeletal development. The current status of MCPP analysis in clinical genetics, particularly with the Prader-Labhart-Willi and Sotos syndromes, is discussed.
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    Metacarpophalangeal pattern profile analysis in diastrophic dysplasia
    (Wiley, 1987-11) Butler, Merlin G.; Gale, David D.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
    We analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 MCPP variables plus age that appears to be a useful diagnostic tool.
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    Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. A follow-up report on 38 cases
    (Wiley, 1985-07) Butler, Merlin G.; Meaney, F. John; Medical and Molecular Genetics, School of Medicine
    Metacarpophalangeal pattern profile (MCPP) was determined on 38 Prader-Willi syndrome individuals and compared with a previous report on 16 patients. Chromosome analysis showed an interstitial deletion of the long arm of chromosome 15 in 20 subjects and normal chromosome results in the remaining 18 individuals. The mean hand profile of 38 individuals was essentially flat while the profiles for the two groups based on chromosome findings were separate in the metacarpal area. Correlation studies confirmed the homogeneity of the deletion group relative to Prader-Willi syndrome individuals with normal chromosomes. Discriminant analysis of Prader-Willi syndrome versus control individuals produced a function of three MCPP variables plus age which may be applied as another diagnostic tool.
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    Metacarpophalangeal pattern profile analysis in Robinow syndrome
    (Wiley, 1987-05) Butler, Merlin G.; Gale, David D.; Meaney, F. John; Wadlington, William B.; Robinow, Meinhard; Medical and Molecular Genetics, School of Medicine
    We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis.
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    Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome
    (Wiley, 1985-04) Butler, Merlin G.; Meaney, F. John; Kittur, Smita; Hersh, Joseph H.; Hornstein, Lusia; Medical and Molecular Genetics, School of Medicine
    The metacarpophalangeal pattern profile (MCPP) was analyzed on 16 Sotos syndrome patients. A mean Sotos syndrome profile was produced. Correlation studies confirm clinical homogeneity of Sotos syndrome individuals. Discriminant analysis of Sotos syndrome patients and normal individuals produces a function of two MCPP variables and age, which may provide a useful tool for diagnosis.
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    Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome: A Follow-up Report on 34 Subjects
    (Wiley, 1988-01) Butler, Merlin G.; Dijkstra, Piet F.; Meaney, F. John; Gale, David D.; Medical and Molecular Genetics, School of Medicine
    Metacarpophalangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool.