PubMed · 1152987
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I E Gordon, C Cooper. 1975-07-17. Improving one's touch.. https://doi.org/10.1038/256203a0
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This work includes all cases with extra digits (polydactyly) registered from a birth sample of over four million births aggregated from two comparable birth series: the Latin-American Collaborative Study of Congenital Malformations: ECLAMC (3,128,957 live and still births from the 1967 to 1993 period), and the Spanish Collaborative Study of Congenital Malformations: ECEMC (1,093,865 livebirths from April 1976 to September 1993, and 7,271 stillbirths from January 1980 to September 1993). All but 2 of 6,912 registered polydactyly cases fit well into one of the following 11 preestablished polydactyly types (observed number of cases in parentheses): Postaxial hexadactyly (5,345), Preaxial-I hexadactyly (1,018), Seven or more digits (57), synpolydactyly (15), crossed polydactyly (45), 1st digit triphalangism (33), 2nd digit duplication (39), 3rd digit duplication (18), 4th digit duplication (22), Haas polysyndactyly (3), and high degree of duplication (4). The birth prevalence rates observed in both series were similar except for postaxial polydactyly, which was more frequent in the ECLAMC (150.2/100,000) than in the ECEMC (67.4/100,000), as expected due to the higher African Black ethnic extraction of the South-American than of the Spanish populations. This similar frequency for the rare polydactylies (5.4 per 100,000 in South America and 5.7 in Spain), and for each one of the 9 categories, suggests that the values reported here are valid for most populations. The rare polydactylies are frequently syndromal: one third of them (77/236) were found in association with other congenital anomalies, 11.0% (26/236) in MCA cases and 21.6% (51/236) in recognized syndromes.
OBJECTIVE: To establish by means of ultrasound and magnetic resonance imaging (MRI) the role of tenosynovitis and arthritis in determining the "sausage-like" aspect of finger dactylitis and to compare the results of the 2 examinations. METHODS: Twelve dactylitic fingers and their corresponding normal contralateral fingers belonging to 10 patients who met the Amor criteria for the diagnosis of seronegative spondylarthropathy (SpA) were studied by ultrasonography and MRI. RESULTS: MRI revealed a significant increase in the volar bone-to-skin distance in dactylitic fingers with respect to that of the normal contralateral fingers (P < 0.001). This increase was due to distension of the flexor synovial sheaths (P < 0.00001) by fluid collection. Peritendinous soft tissues were not involved, since these were found to be significantly thicker in the normal fingers (P < 0.05). Of the 36 joints of the 12 dactylitic fingers, only 1 showed capsule distension. Using MRI as the "gold standard," ultrasonography showed a 100% sensitivity and specificity for flexor tenosynovitis, but lacked sensitivity for joint involvement because it failed to reveal joint capsule distension in the only joint involved. Similarly, physical examination showed a 100% sensitivity and specificity for flexor sheath involvement. CONCLUSION: Dactylitis is due to flexor tenosynovitis. Enlargement of the finger joint capsule is not an indispensable condition for the "sausage-like" feature. Physical examination is a sufficient method for the diagnosis of dactylitis.
Congenital fusion of the fourth and fifth metacarpals is described in a male infant and his maternal grandfather. Primary gonadal failure, which is present in the infant, has not been noted in previously, reported cases. The pedigree in this family is compatible with X-linked recessive or autosomal dominant inheritance with incomplete penetrance.