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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Currently, 50 cases of craniocarpotarsal dysplasia, or whistling face syndrome (WFS), have been reported, with more than 60 anatomical anomalies involving the head, hands, and feet, in addition to the face. In spite of the fact that there is much information concerning the surgical correction of many of these deformities, such as the surgical program for the hands outlined by Call and Strickland in 1981, there is little information concerning the surgical correction of facial deformities. In view of this, we present here a case report of a patient with WFS and our surgical approach to the facial deformities involved. Since January 24, 1983, when this 7-year-old girl first came into our care, she has successfully undergone a total forehead reshaping, correction of congenital upper eyelid ptosis, and a bilateral commissuroplasty. Follow-up for more than three years has shown stable surgical results.
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PMID:Craniocarpotarsal dysplasia: the whistling face syndrome. 334 20

We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type 1, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty-two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA-E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman-Sheldon syndrome, trismus-pseudo-camptodactyly syndrome, congenital contractural arachnodactyly, and familial camptodactyly. Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.
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PMID:The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 703 11

Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus. We corrected the blepharophimosis in Case 1 by bilateral canthotomy and canthoplasty. This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to our cases. Nevertheless, this could be explained by genetic expression of the mutant gene.
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PMID:Whistling face (Freeman-Sheldon) syndrome in two siblings. 782 40