RESUMO
Background: Cleft hand is a rare and congenital deformity that affects hands and feet and can be associated with other malformations. The objective was to evaluate the epidemiological and clinical aspects of cleft hand patient in a case series. Methods: Baseline characteristics associated with this deformity, such as sociodemographic characteristics, affected upper limb side, family history, clinical manifestations, and the degree of deficiency according to Barsky, Manske and Halikis, and Valenti classifications, were analyzed in 38 patients treated in the Department of Orthopedic Surgery of the Irmandade da Santa Casa de Misericórdia de São Paulo, Brazil. Results: A predominance of typical hands as classified by Barsky, types II and IV by Manske and Halikis, and type IV by Valenti was found. A high frequency of typical cases (55.3%), as defined by Barsky, had a positive family history (P = .031) and were associated with other clinical manifestations (44.7%), when compared with atypical cleft hand patients (P < .001). Conclusion: In our study, there were more typical cleft hands than atypical, and they were more commonly associated with family history and other clinical manifestations.
Assuntos
Dedos/anormalidades , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas dos Membros/epidemiologia , Sindactilia/epidemiologia , Adulto , Brasil/epidemiologia , Feminino , Hospitais Públicos , Humanos , Masculino , Distribuição por SexoRESUMO
OBJETIVO: Analisar e comparar as características dos pacientes com sindactilia congênita com os dados da literatura.MÉTODOS: Estudo retrospectivo baseado na análise do prontuário médico de 47 pacientes tratados em um período de 10 anos.RESULTADOS: Dos pacientes, 33 (70%) eram do sexo masculino e 14 (30%) do feminino. O número total de sindactilias foi de 116. A mão direita foi acometida em 19 casos (40%), a mão esquerda em 12 (24%) e em 17 (36%) o acometimento foi bilateral. Dezesseis (34%) pacientes possuíam síndromes genéticas. Entre os 31 (66%) não-sindrômicos, 12 (39%) apresentavam sindactilias isoladas e 19 (61%) associação com outras malformações da mão. O terceiro espaço foi acometido 45 (39%) vezes, seguido do quarto espaço com 35 (30%), do segundo com 22 (19%) e do primeiro com 14 (12%). As sindactilias simples foram encontradas 68 (59%) vezes, sendo completas em 44 (65%) situações e parciais em 24 (55%). As complexas foram identificadas 48 (41%) vezes.CONCLUSÃO: Os resultados obtidos na presente série são muito semelhantes aos dados encontrados na literatura. Estudo Epidemiológico.
OBJECTIVE: To assess and report clinical data from patients with syndactyly.METHODS: A retrospective review of 47 patients treated between April 2002 and April 2012.RESULTS: Among the 47 analyzed patients, 33 (70%) were male and 14 (30%) female. The total number of syndactylies was 116. The right hand was affected in 19 patients (40%), the left hand in 12 (24%) and 31 (36%) were bilaterally compromise. Sixteen patients (34%) also presented genetic syndromes. Among the 31 (66%) patients without syndromes, 12 (39%) had isolated syndactyly and 19 (61%) presented association with other hand anomalies. The third web space was affected 45 (39%) times; the fourth, 35 (30%) times; the second, 22 (19%) times and the first web space 14 (22%) times. Simple syndactyly was found 68 (59%) times, complete syndactyly in 44 (65%) and incomplete in 24 (55%). Complex syndactyly was found 48 (41%) times.CONCLUSION: The results in this study are similar to the literature. Epidemiological Study.
Assuntos
Humanos , Masculino , Feminino , Sindactilia/cirurgia , Sindactilia/epidemiologia , Estudos Epidemiológicos , Prontuários Médicos , Estudos RetrospectivosRESUMO
Syndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non-Latin-European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.
Assuntos
Frequência do Gene , Sindactilia/epidemiologia , População Negra , Brasil , Feminino , Humanos , Recém-Nascido , Masculino , Razão de Masculinidade , População BrancaRESUMO
Pectoralis major muscle defect (PMD) was diagnosed in 27 infants from a series of 599,109 live births in South America (1/22,189). In all 27 cases the PMD was unilateral, mainly affecting the right side (20/27), and there were more male (19/27) than female cases. No familial cases and no parental consanguinity were recorded. A positive correlation was observed between PMD and sex hormone intake and vaginal bleeding in the first trimester of pregnancy. In 12 (1/49,925) of the 27 PMD cases hypoplasia and/or syndactyly of the ipsilateral hand was also diagnosed. The index-middle interdigital space was affected in all 11 cases with symbrachydactyly. Additional congenital anomalies were observed in 4/27 cases, and they were: hemangiomas, hypospadias, and clubfeet. Poland complex (12 cases), isolated PMD (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, syndactyly type, and sex ratio.
Assuntos
Músculos Peitorais/anormalidades , Sindactilia/complicações , Adulto , Brasil , Feminino , Hormônios Esteroides Gonadais/administração & dosagem , Humanos , Recém-Nascido , Masculino , Idade Paterna , Gravidez , Risco , Razão de Masculinidade , Sindactilia/embriologia , Sindactilia/epidemiologia , SíndromeRESUMO
Seven different limb malformations types were defined in 544 affected newborns, apparently free from other anomalies, obtained from a series of 297,299 livebirths. These seven malformation types were: polydactyly, limb reduction, brachydactyly, symphalangy, syndactyly and split hand/foot. One anomaly type was present in 472 newborns (1.58/1,000) and two or three in 72 (0.24/1,000). The observed combinations of two or three limb malformation types cannot be explained as chance association. Therefore, a common etiopathogenic mechanism has to be considered when two or more limb malformation types are combined in a given individual. The most frequent observed combinations were: reduction-brachydactyly, reduction-syndactyly, brachydactyly-syndactyly, polydactyly-syndactyly, and reduction-brachydactyly-syndactyly. Based on affected limb distribution, sex ratio, and familial recurrence rates, it is suggest that a reduction anomaly is the primary component in all tested combinations while syndactyly tends to be a secondary one when combined with any other limb anomaly type.