Genetic analysis of one family with congenital limb malformations / 中华医学遗传学杂志

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.

Congenital Clinodactyly of the Thumb.

Aims: To present five patients with thumb clinodactyly and the results of surgical treatment in two patients who were followed till skeletal maturity. Case Presentation: Four patients (five thumbs) exhibited an ulnar interphalangeal angulation and were all associated with a triphalangeal thumb, while in only one patient a radial deviation associated with a longitudinal epiphyseal bracket of the proximal phalanx was noted. Three patients (four thumbs) received primary surgical treatment for thumb polydactyly. A three-phalangeal thumb was retained in all. Two of these thumbs were also treated surgically for clinodactyly. Removal of the accessory delta phalanx and reconstruction of the soft tissues was performed in a 3-year-old girl. Follow-up at 18 years of age revealed reduced size of the thumb, limitation of flexion and a secondary radial interphalangeal deviation. A closing wedge osteotomy of the shaft of the proximal phalanx, leaving the delta phalanx undisturbed, was performed in a 12-year-old girl. Follow-up at 18 years of age revealed no loss of thumb alignment but not improved function. Discussion: The aim of surgical reconstruction of thumb clinodactyly is to create a painless thumb of adequate mobility, stability, alignment and size. Removal of an angulated middle phalanx in a very young child should be associated with a ligament reconstruction from the soft tissues. In an older child or adult, an osteotomy of the shaft of the proximal phalanx or fusion of the oblique joint and realignment with bone resection may be indicated. The real value of a surgical procedure may be evaluated only when the satisfactory result remains unimpaired beyond skeletal maturity. Conclusion: Surgical reconstruction of thumb clinodactyly may require specific challenges and techniques to obtain a painless, properly aligned, stable thumb with improved function that will retain the satisfactory result beyond skeletal maturity.

Surgical Correction of Hexadactyly: Innovation of New Technique and Its Application

PURPOSE: Hexadactyly without thumb is a rare congenital anomaly of the hand where six triphalangeal digits are symmetrically distributed without thumb. Contrary to mirror hands, triphalangeal six digits are symmetrically distributed on each side at the midline with well-differentiated carpal bones, extensor tendons, one ulna and one radius. The authors developed a new surgical technique based on a three-dimensional concept to correct the hexadactyly and applied to 2 cases of hexadactyly with good functional and aesthetic results. Here we document the surgical technique and its result. METHODS: A 16 month old male patient visited our clinic with chief complaints of bilateral hexadactyly deformity. On physical examination most radial first and second digits showed no opposition and adduction motion on both side hands. Radiography showed 6 triphalangeal digits with normal development of carpal, radial and ulnar bone. Right side abnormality was corrected by removal of most radial side extra-digit, rotation and migration of 2nd ray to thumb position and creation of 1st web by transposing a mid-palm based rectangular palmar flap as in Snow & Littler procedure which has been being applied for correction of 1st web syndactyly in cleft hand deformity. Seven months later, left side abnormality was also corrected with the same procedure. RESULTS: Postoperative appearances of the both hands were satisfactory. Flexion, extension, opposition and grasping were possible with the pollicized 2nd ray. Pinching power was 3.0kg 15 months after the surgery and 2.5kg 22 months after in right hand respectively. CONCLUSION: In correction of hexadactyly deformity, satisfactory aesthetic and relevant functional results can be expected with authors' newly developed technique: removal of most radial digit, rotation and migration of 2nd digit to thumb position as well as creation of the 1st web space by transposition of mid-palm based rectangular flap.

Triphalangeal Thumb: Case Report / 대한정형외과학회잡지

Thiphalangeal thumb is characterized by interposition of an extraphalanx between the two normal phalanges of the thumb. The extra-phalanx varies from a small triangular bone to a normal phalanx in what appears to be a thumbless five fingered hand. Triphalangeal thumbs are divided into three types and the treatment differs from associated anomalies and clinical features. We had a bilateral triphalangeal thumbs treated by closed wedge osteotomy to the extra-phalanx.