Literature DB >> 6662143

Adducted thumb syndrome. Report of a new case and a diagnostic approach.

J Kunze, W Park, K H Hansen, F Hanefeld.   

Abstract

We report on a female newborn baby with a "myopathic" stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.

Entities:  

Mesh：

Year:  1983        PMID： 6662143     DOI： 10.1007/bf00496805

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  17 in total

1.  The syndrome of sex-linked hydrocephalus.

Authors:  J H EDWARDS
Journal:  Arch Dis Child       Date:  1961-10       Impact factor: 3.791

2.  Congenital clasped thumb.

Authors:  L K LOOMIS
Journal:  J La State Med Soc       Date:  1958-01

3.  Dominantly inherited ulnar drift.

Authors:  R E Stevenson; C I Scott; M Epstein
Journal:  Birth Defects Orig Artic Ser       Date:  1975

4.  Camptodactyly and simialr atraumatic flexion deformities of the proximal interphalangeal joints of the fingers. A study of thirty-one cases.

Authors:  R J Smith; E B Kaplan
Journal:  J Bone Joint Surg Am       Date:  1968-09       Impact factor: 5.284

5.  Congenital clasped thumb (congenital flexion-adduction deformity of the thumb. A syndrome, not a specific entity.

Authors:  E C Weckesser; J R Reed; K G Heiple
Journal:  J Bone Joint Surg Am       Date:  1968-10       Impact factor: 5.284

6.  Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.

Authors:  A F Alves; E S Azevedo
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

7.  Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

Authors:  J Spranger; K Benirschke; J G Hall; W Lenz; R B Lowry; J M Opitz; L Pinsky; H G Schwarzacher; D W Smith
Journal:  J Pediatr       Date:  1982-01       Impact factor: 4.406

8.  Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome).

Authors:  J J Sauk; J R Delaney; C Reaume; R Brandjord; C J Witkop
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

9.  A family study of hydrocephalus resulting from aqueduct stenosis.

Authors:  F M Howard; K Till; C O Carter
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

Review 10.  The distal arthrogryposes: delineation of new entities--review and nosologic discussion.

Authors:  J G Hall; S D Reed; G Greene
Journal:  Am J Med Genet       Date:  1982-02
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