Mutation in GLI3 in postaxial polydactyly type A.
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The pre-axial polydactylous mouse mutant Doublefoot has 6-9 digits per limb but lacks anteroposterior polarity (there is no biphalangeal digit 1). It differs from other polydactylous mutants in showing normal Shh expression, but polarizing activity (shown by mouse-chick grafting experiments) and hedgehog signalling activity (shown by expression of Ptc1) are present throughout the distal mesenchyme. The Dbf mutation has not yet been identified. Here we review current understanding of this mutant, and briefly report new results indicating (1) that limb bud expansion is concomitant with ectopic lhh expression and with extension of the posterior high cell proliferation rate into the anterior region, and (2) that the Dbf mutation is epistatic to Shh in the limb.
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A new technique for the treatment of the most common type of postaxial polysyndactyly of the foot is presented. The technique employs four local flaps and a skin graft from the pedal area. The outermost skeletal elements and nail tissue were excised, while the fourth interdigital commissure was deepened. This differs from historical techniques of desyndactylization in the hand that have been applied to surgery in the foot. The new technique is characterized by minimal waste of tissue from the outermost toe with preservation of the dominant fifth toe.
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We present two siblings, one male and one female, who have heart defects, duplication of toes, airway anomalies, and aganglionosis. The brother also has a bilateral complete cleft lip and palate. His airway anomalies include short epiglottis and aryepiglottic folds, which are different from his sister who has a bifid epiglottis with a central epiglottic mass. Both siblings have had some developmental delay. This constellation of anomalies appears to be unique and may represent a new autosomal recessive disorder.
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A child with true triplication of the thumb is reported. Each thumb has a well-developed metacarpal, and one of them is biphalangeal; the remaining 2 are triphalangeal. Satisfactory result was obtained from a functional and esthetic point of view. Our surgical approach to this interesting anomaly and the necessity of a new group under the Wassel classification for the categorization of different forms of thumb triplications is discussed.
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