ABSTRACT
Objective@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*Methods@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*Results@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*Conclusion@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.
ABSTRACT
Introducción. La polidactilia se define como un exceso de dígitos o partes en manos o pies. La polidactilia del pulgar (preaxial) es la más común en la población blanca y asiática. Es importante el manejo quirúrgico temprano para evitar deformaciones en el dígito afectado. Métodos. Estudio retrospectivo de los pacientes que ingresaron al Instituto Nacional de Pediatría con diagnóstico de polidactilia preaxial en el período de marzo de 2001 a febrero de 2003. Resultados. Se diagnosticaron 57 pacientes, con edad promedio de 19 meses. Predominaron pacientes del sexo masculino (n =41) sobre los del femenino (n =16). Se encontraron 2 pacientes con pulgar duplicado en ambas manos, 39 pacientes en mano derecha y 16 en mano izquierda (total =59). El tipo IV de Wassel fue el más frecuentemente encontrado. A todos los pacientes se les realizó manejo quirúrgico. Se presentaron 10 pacientes (16.94%) con secuelas menores postoperatorias. Conclusiones. La casuística reportada en este trabajo es significativa. La correcta clasificación de esta malformación es importante para realizar una cirugía adecuada que tenga como objetivo la restauración funcional y estética de la mano.
Introduction. Polydactyly is defined as an excess of digits or parts in the hand or foot. Thumb (preaxial) polydactyly is commonly found in white and Asian populations. Early surgical management is important to avoid deformations in the affected digit. Methods. Patients were seen at the Instituto Nacional de Pediatria with a diagnosis of preaxial polydactyly during the period from March 2001 to February 2003. Results. Fifty seven patients with an average age of 19 months were observed. We found a prevalence of the masculine (n= 41) in comparison with the feminine gender (n= 16). Two patients had a duplicated thumb on both hands: 39 patients on the right and 16 on the left hand (total= 59 duplicated thumbs). Wassel type IV was the most frequently found polydactyly. All patients had surgical management; 10 patients had minor postsurgical residual deformities. Conclusions. The casuistic reported in this work is significant. Proper classification of this abnormality is important to offer the patient the proper surgery for restoring the hand’s function and aesthetics.
ABSTRACT
Polydactyly is the most common congenital anomaly of the upper limb. Polydactyly is classified as preaxial polydactyly(thumb), central polydactyly(index, middle and ring fingers), and postaxial polydactyly(little finger) by the site of the extra digit. A 3-day-old female newborn had a 1.5 * 1.0cm sized flesh color ed pedunculated sac like mass on the proximal phalanx of her right thumb since birth. A roentgenogram on the hand revealed no bony abnormalities of the digit and the mass contained no bony structures. The stalk of the mass was cut by the CO2 laser. On histopathological examination, a cartilage structure was found in the loosely arranged, edematous dermis and the overlying epidermis was flattened. The clinical and histological findings support the diagnosis of preaxial polydactyly. We report this interesting case of preaxial polydactyly with a review of the literature.