Browsing by Subject "Prader-Labhart-Willi syndrome"

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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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    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.