Donor Foot Morbidity Following Nonvascularized Toe Phalanx Transfer Utilizing a New Reconstruction Technique.

BACKGROUNDS: Nonvascularized toe phalanx transfer is an accepted surgical option for short and hypoplastic digits in congenital hand abnormalities. However, one of the criticisms of this technique is the donor site morbidity. The purpose of this study was to evaluate donor foot morbidity after nonvascularized toe phalanx transfer using a new donor site reconstruction technique. METHODS: We retrospectively reviewed 116 nonvascularized toe phalanx transfers in 69 children between 2001 and 2020 in whom the donor foot was reconstructed with a new technique using iliac osteochondral bone graft with periosteum. Feet treated with an isolated donor proximal phalanx of the fourth toe were selected and morbidity was assessed both subjectively and objectively at a minimum of 2 years after surgery. Motion, stability, and alignment of the metatarsophalangeal joint were clinically evaluated. The relative length of the fourth toe to the third toe was measured on a roentgenogram. The satisfaction of the parents for overall function and appearance was evaluated using a visual analog scale. RESULTS: Ninety-four operated feet in 65 patients, including 43 boys and 22 girls, were included. The right foot was evaluated in 52 patients and the left foot in 42 patients. The mean age at operation was 2 years and the mean follow-up period was 7.6 years. Motion at the metatarsophalangeal joint was good at 69% with an average extension of 45 degrees and flexion of 25 degrees. Stability and alignment were good at 95% and 84%, respectively. Only 4 toes had gross instability and 4 toes with poor alignment required revision surgery. Sixty-two toes (66%) maintained proportional length and 9 toes were graded as short. Parental satisfaction was high for appearance as well as function. CONCLUSIONS: This newly described technique of using iliac osteochondral bone graft with periosteum to reconstruct toe phalanx donors provided satisfactory results. The function and appearance of the donor foot after a nonvascularized toe phalanx transfer was well preserved. LEVEL OF EVIDENCE: Level IV; therapeutic.

Treatment of Blauth Type IIIB Thumb Hypoplasia Using a Nonvascularized Toe Phalanx.

PURPOSE: The purpose of this study was to evaluate surgical outcomes of thumb preservation surgery for Blauth type IIIB hypoplastic thumbs using a nonvascularized toe phalanx to reconstruct the carpometacarpal joint. METHODS: We reviewed the records of 12 patients with Blauth type IIIB thumb hypoplasia who underwent nonvascularized toe proximal phalanx transfer from the fourth toe. Stability and mobility of the thumb, lateral pinch power, and the percentage of the thumb length relative to the index finger proximal phalanx were evaluated. Outcomes were also assessed with the Functional Dexterity Test, a visual analog scale for daily use of the operated thumb, and for overall functional and appearance satisfaction of the parents. RESULTS: Age at operation ranged from 0.9 to 11 years (mean, 3.0 years; median, 1.5 years). The mean follow-up period was 7.6 years (minimum, 3 years). Secondary reconstruction was planned in all 12 patients, but 2 families did not desire a second surgery. Secondary reconstruction consisted of tendon transfer for opposition, adduction, and/or extension of the reconstructed thumb and/or realignment surgery of the thumb axis by arthrodesis or corrective osteotomy. Eleven patients had good carpometacarpal joint stability. Thumb opposition was possible to the little finger in 7, to the middle finger in 3, and not possible in 2 patients. The mean lateral pinch strength was 18% of the contralateral normal side. The relative length of the thumb was 57% of the index finger. Time in seconds to complete Functional Dexterity Test was 83 seconds in the affected side and 38 seconds for the contralateral side. The visual analog scale suggested parental satisfaction for both the appearance and the function. The parents felt that their child used the reconstructed thumb more frequently when manipulating large objects than when manipulating small objects. CONCLUSIONS: Nonvascularized toe phalanx transfer is a useful procedure to preserve the thumb in Blauth type IIIB thumb hypoplasia. It provides a mobile, stable thumb that is functionally useful for the child and satisfying for the family. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Assessment of hand function using the functional dexterity test after opponensplasty in young children with Blauth type 2 hypoplastic thumb.

The functional dexterity test (FDT) is a timed pegboard test based on the manipulation of each peg and suitable for young children as it is both simple and quick to perform. We assessed the postoperative FDT values for children with Blauth type 2 hypoplastic thumbs after opponensplasty. We evaluated hand function using FDT for 12 hands of 11 patients with Blauth type 2 hypoplastic thumbs. Opponensplasty was performed in all hands following by Huber's procedure. All patients were evaluated from 6 to 12 months after surgery for hand function using three types of FDT scores: time in seconds to complete the test (FDT time), combined total time with penalty seconds added to the initial time (FDT total), and the number of pegs per second to complete the task as a percentage against normative values (FDT speed). We compared the postoperative FDT scores with those for Blauth type 1 or 2 hypoplastic thumb patients without surgical treatment. FDT time and FDT total for the patients postoperatively were both significantly shorter than those in the type 2 patients without surgical treatment. FDT speed was significantly higher than that for the patients without surgical treatment. There were no significant differences in the three FDT scores between the postoperative patients and the type 1 patients. There were several limitations including small sample size, large ranges of the data, and high number of variables. FDT reflected postopponensplasty improvement in hand dexterity in young children with Blauth type 2 hypoplastic thumb.

The morphologic change of the elbow with flexion contracture in upper obstetric brachial plexus palsy.

BACKGROUND: Contracture of the elbow after obstetric brachial plexus palsy (OBPP) is well known; however, details of the 3-dimensional (3D) morphologic changes in the elbow joint in OBPP have not been clarified. This study aimed to clarify the 3D morphologic changes in the elbow joint by focusing on the distal humerus with flexion contracture in upper OBPP. We tested the hypothesis that the shape of the distal humerus with flexion contracture in upper OBPP is hypoplastic in the trochlea, capitellum, and olecranon fossa. METHODS: We retrospectively studied 20 patients with elbow flexion contracture and residual OBPP. The approximate radius of the distal humerus, the shortest distance between the olecranon and coronoid fossa, and the size of the olecranon fossa were measured and compared between the affected and normal sides using 3D bone models to assess the distal humerus morphology. RESULTS: The average radius of the distal humerus was smaller on the affected side than on the normal side. Furthermore, the average distance between the olecranon and coronoid fossa was greater and the average size of the olecranon fossa was smaller on the affected side than on the normal side. The size of the distal humerus was significantly smaller and the olecranon fossa was significantly shallower on the affected side. CONCLUSIONS: Consistent with our original hypothesis, the distal humerus with flexion contracture in upper OBPP was hypoplastic. The shallow olecranon fossa might prevent full extension of the elbow even though soft tissue contracture release is performed. We recommend evaluation of the morphology of the olecranon fossa to determine the treatment plan for elbow flexion contracture with OBPP.

Clinical Findings and Treatments of a Radially Deviated Type of Thumb Polydactyly.

BACKGROUND: Patients with some thumb polydactyly subtypes are regarded as having a high risk of secondary deformities or poor treatment outcomes. Radially deviated type is one of these subtypes, but its characteristics and definitive treatment outcomes remain unclear. This study aimed to evaluate the pre- and intraoperative findings and surgical outcomes of this subtype. METHODS: We identified eight patients with unilateral and proximal phalanx-type polydactyly. The mean age at surgery was 14.6 months, and the mean follow-up period was 7.2 years. We investigated the patients' initial radiograms, surgical procedures and findings, changes in alignment of the retained thumb, and postoperative outcomes using the Japanese Society for Surgery of the Hand scoring system. RESULTS: Although the gross appearance of the thumb was a radial deviation, there was an ulnar deviation at the metacarpophalangeal joint on radiography. The ulnar proximal phalanges were delta phalanges in three patients and were connected with the radial proximal phalanges by cartilage in five patients. We retained the ulnar thumbs in all patients and corrected the alignment in seven cases; open wedge osteotomy was performed for three patients with a delta phalanx, and tendon transfers from the radial to ulnar thumb were performed for the other four. The mean outcome score was 17.6/20, with one patient with excellent, six with good, one with fair, and none with poor scores. One patient experienced recurrent radial deviation around the interphalangeal joint five years after surgery and underwent corrective osteotomy, but the other patients maintained good alignment. CONCLUSIONS: Radially deviated thumb polydactyly is not simply radially deviated; the shape of the proximal phalanx of the ulnar thumb is important to determine the surgical procedure. However, our results indicated that the alignment is almost manageable, and the surgical outcome was comparable to that of patients with a proximal phalanx-type thumb polydactyly.

Concept and treatment outcomes of dynamic spinal brace for scoliosis in cerebral palsy.

We developed a novel device, dynamic spinal brace (DSB), with the basic concept of automatic correction by maximizing posture control. Herein, we report the structure of the DSB and preliminary treatment outcomes for scoliosis in patients with cerebral palsy. The study cohort comprised 219 patients with cerebral palsy treated for scoliosis with Cobb angle of at least 20° and follow-up of more than 3 years under the DSB. Cobb angle, trunk shift, and pelvic obliquity were assessed by semi-sitting radiography, and a questionnaire on daily lifestyle was collected. The immediate correction of these parameters by wearing DSB was demonstrated. In those who aged older than 15 years, the annual progression was 1.0°, and trunk shift was not deteriorated statistically. The questionnaire survey indicated that the DSB led to improvements in QOL and caregiving, and only 3.5% of the patients discontinued DSB because of intolerance. However, we could not find clear evidence that DSB affects the natural history of scoliosis in children with cerebral palsy.

The prognostic value of concurrent Horner syndrome in surgical decision making at 3 months in total-type neonatal brachial plexus palsy.

We investigated the prognostic value of concurrent Horner syndrome for predicting spontaneous motor recovery in surgical decision making at 3 months with neonatal brachial plexus palsy. Medical records of 129 neonates with total-type brachial plexus palsy were reviewed, and clinical and follow-up data of patients with or without Horner syndrome were compared. Twenty-seven of 129 newborn babies with total-type palsy (21%) had concurrent Horner syndrome. Poor spontaneous motor recovery was observed in 21 (78%) neonates with concurrent Horner syndrome and in 84 (82%) without concurrent Horner syndrome. Concurrent Horner syndrome in neonates with brachial plexus palsy has no prognostic value in predicting poor spontaneous motor recovery of the brachial plexus in patients with total-type palsy. LEVEL OF EVIDENCE: III.

Natural history of scoliosis in cerebral palsy and risk factors for progression of scoliosis.

BACKGROUND: Scoliosis in cerebral palsy (CP) often occurs and causes a disturbance in daily life. The purpose of this study was to investigate the natural history of scoliosis in cerebral palsy and determine risk factors for the progression of scoliosis using multivariate analyses. METHODS: We revised 113 patients with CP (47 males and 66 females) who had scoliosis with a curve of at least 10° were reviewed and retrospectively investigated these cases of scoliosis and analyzed the risk factors for the progression of this condition. RESULTS: The mean follow-up period was 16.5 years and the mean age at onset of scoliosis was 6.6 years (range: 1-16 years). In 59 patients (52%), the age at onset of scoliosis was under 6 years. On the final radiographs, the mean Cobb angle was 55.1° (range: 10° to 169°). After the age of 20 years, 13 of 40 patients (32.5%) had a progression of over 10° in scoliosis. Multivariate analyses showed the risk factors for the progression of scoliosis to be hip displacement (p = 0.0038), the onset of scoliosis before the age of 6 years (p = 0.0024), and 30° of the Cobb angle before the age of 10 years (p < 0.001). A subtype of CP (spastic quadriplegia) was identified as a potential risk factor. CONCLUSIONS: After the age of 20 years, 32.5% patients had a progression of over 10° in scoliosis. Risk factors for the progression of scoliosis in CP included hip displacement, early-onset scoliosis, and Cobb angle of 30° before the age of 10 years. LEVEL OF EVIDENCE: Prognostic level IV - case series.

Five- and 10-Year Follow-Up of Nonvascularized Toe Phalanx Transfers.

PURPOSE: The purpose of this study was to evaluate long-term outcomes of nonvascularized toe phalanx transfer. METHODS: We retrospectively reviewed 54 nonvascularized toe phalanx transfers in 29 children with symbrachydactyly. Forty-seven transfers in 24 children were evaluated at 5-year follow-up and 27 transfers in 14 children were evaluated at 10-year follow-up. We recorded the incidence of the early physeal closure and the length of the transferred toe phalanx on plain radiographs at 5- and 10-year follow-up. Growth rate in the first 5 years and the following 5 years were calculated. Function of the metacarpophalangeal joint (motion, stability, and alignment) was also evaluated. RESULTS: The mean age at surgery was 1.5 years. Seven toe phalanges were trimmed because the skin pocket was tight. Five transfers required revision surgery for partial necrosis of the skin pocket. At 5-year follow-up, the physis was closed in 23%, and at 10 years, 78% of physes were closed. The phalanx length was 87% of expected at 5-year follow-up and 71% at 10-year follow-up. Growth rate was 0.83 mm/y in the first 5 years and 0.22 mm/y in the following 5 years. Active motion was rated as good in 24, fair in 7, and poor in 16. Stability and alignment were rated as good in 37 and 33, fair in 8 and 5, and poor in 2 and 9, respectively. CONCLUSIONS: Nonvascularized toe phalanx transfer offered a relatively simple method to lengthen short digits and to provide satisfactory function. The transferred toe phalanges grew at a near-normal rate in the first 5 years, but the growth rate decreased between 5 and 10 years. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Focal fibrocartilaginous dysplasia in the ulna with the radial head dislocation: a case report and literature review.

Focal fibrocartilaginous dysplasia (FFCD) is a rare benign bone lesion, which mainly occurs in the proximal tibia. In the upper extremity, only 21 cases have been reported so far and 14 of these involved the ulna. We present an additional case of FFCD in the distal ulna that showed progressive bowing of the right forearm and the radial head dislocation. Resection of the abnormal tissue, osteotomy of the radius and ulna, and gradual lengthening of the ulna were performed. On the basis of the previously published data of 14 cases and our data, we have summarized the etiology, clinical features, natural history, and treatment of FFCD in the ulna.

The prognostic value of concurrent phrenic nerve palsy in newborn babies with neonatal brachial plexus palsy.

PURPOSE: To investigate the prognostic value of concurrent phrenic nerve palsy for predicting spontaneous motor recovery in neonatal brachial plexus palsy. METHODS: We reviewed the records of 366 neonates with brachial plexus palsy. The clinical and follow-up data of patients with and without phrenic nerve palsy were compared. RESULTS: Of 366 newborn babies with neonatal brachial plexus palsy, 21 (6%) had concurrent phrenic nerve palsy. Sixteen of these neonates had upper-type palsy and 5 had total-type palsy. Poor spontaneous motor recovery was observed in 13 neonates with concurrent phrenic nerve palsy (62%) and in 129 without concurrent phrenic nerve palsy (39%). Among neonates born via vertex delivery, poor motor recovery was observed in 7 of 9 (78%) neonates with concurrent phrenic nerve palsy and 115 of 296 (39%) without concurrent phrenic nerve palsy. CONCLUSIONS: Concurrent phrenic nerve palsy in neonates with brachial plexus palsy has prognostic value in predicting poor spontaneous motor recovery of the brachial plexus, particularly after vertex delivery. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Rapid growth of supracondylar process: a case report.

The supracondylar process, a bony, beak-like spur on the anteromedial surface of the distal humerus, is a rare congenital abnormality. We present a rare case of a 20-month-old child showing rapid growth of the supracondylar process over 16 months that required surgical excision. A supracondylar process in a young patient may show a tendency for rapid growth.

Growth of the ulna after repeated bone lengthening in radial longitudinal deficiency.

BACKGROUND: Shortening of the ulna is one of the characteristic features of the radial longitudinal deficiency, which could be treated with repeated bone lengthening. The purpose of this study is to assess the changes in growth rate of the ulna after repeated bone lengthening in radial longitudinal deficiency. METHODS: Five children (3 boys, 2 girls) who underwent twice bone lengthening of the ulna were reviewed. All patients had unilateral Bayne type IV radial longitudinal deficiency and had received centralization of the ulna previously. Ulnar length was measured on radiographs. Percent length against the normal side was used to measure differences between individuals. Ulnar growth rate was calculated as change in length over time. RESULTS: Ulnar length was 57.4% of the normal side on average at first visit to our hospitals. Percent length against the normal side became 88.9% immediately after the first lengthening. Then percent length decreased to 70.1% just before the second lengthening and became 101.7% after the second lengthening. Finally, it decreased to 82.9% at the last follow-up. Annual bone growth rate decreased after the first and second lengthening. Especially after the second lengthening, bone growth remarkably decreased. There were no complications except for pin-site infections at the first lengthening, whereas contracture of the elbow joint and callus fracture occurred at the second lengthening. CONCLUSIONS: Our study showed growth retardation occurred after bone lengthening and that the second lengthening resulted in remarkable growth retardation. We recommend delaying the second lengthening until the skeletal growth stops. Our series is small in number and we must investigate the influence of other factors (age, effect of the previous centralization, the amount of length, etc.). Further investigation will be needed to get firm conclusion. LEVEL OF EVIDENCE: Level IV.

[Genetic basis for skeletal disease. Orthopaedic intervention for bone dysplasias].

The aims of orthopaedic intervention for bone dysplasias are to maintain joint function, to prevent neurological complications, and then to improve the patient's quality of life. Bone lengthening technique can not only increase the body height, but also correct malalignment of the limb at the same treatment session, which is important to prevent early occurrence of the degenerative osteoarthritis. Intramedullary nailing for osteogenesis imperfecta protects long bones from fractures and prevents malunion when fracture takes place. Spinal instrumentation surgery is effective for prevention of the neurological complications and deterioration of the spinal deformities.

Czech dysplasia occurring in a Japanese family.

Czech dysplasia (OMIM 609162) is a recently established COL2A1 disorder characterized by normal height, early-onset osteoarthritis, platyspondyly, short metatarsals, and the absence of ophthalmological complications or cleft palate. A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. Since all of the 11 families and patients reported to date were of European ancestry, an ancient single origin of the R275C mutation was speculated about. Here we report on a Japanese family consisting of three patients with Czech dysplasia, each member showing valgus knees in addition to remarkably uniform manifestation of the clinical and radiological abnormalities. Mutation analysis documented the COL2A1 c.823C > T mutation in all affected individuals. In conclusion, this report provides novel evidence for the independent occurrence of Czech dysplasia among the populations.

Mirror foot: treatment of three cases and review of the literature.

PURPOSE: To describe three cases of mirror foot and to develop a new classification of the mirror feet with an emphasis on their treatment. METHODS: Surgical treatment was performed on three patients with mirror foot. Mirror feet in the English literature were surveyed and cases found in PubMed as well as our three cases were classified according to a new classification that was an analogy of the mirror hand classification proposed by Al-Qattan et al. (J Hand Surg Br 23:534-536, 1998). RESULTS: All three cases obtained satisfactory outcome after the treatment. In addition to these cases, 28 mirror feet were well described in the English literature, among which only seven cases have been documented for their treatment. All of the cases could be assigned to one of the categories of the proposed classification. CONCLUSION: Mirror foot is a very rare congenital deformity of the foot. We successfully treated three novel cases of mirror feet. A classification of the mirror feet proposed in this article was useful in order to understand its nature and obtain a guideline for its treatment.

Expression of HMGA2-LPP and LPP-HMGA2 fusion genes in lipoma: identification of a novel type of LPP-HMGA2 transcript in four cases.

BACKGROUND: In a subset of lipoma, a specific t(3;12)(q27-28;q14-15) chromosomal translocation leads to the fusion of the high mobility group A2 (HMGA2) gene and the lipoma preferred partner (LPP) gene. Although the expression of HMGA2-LPP fusion gene has been reported in lipomas, the reciprocal LPP-HMGA2 fusion gene has rarely been described. MATERIALS AND METHODS: Ninety-eight cases of lipoma were analyzed for the possible expression of HMGA2-LPP and LPP-HMGA2 fusion genes using a reverse-transcription polymerase chain reaction method. RESULTS: Ten lipomas (10%) revealed both HMGA2-LPP and LPP-HMGA2 fusion transcripts, nine (9%) only HMGA2-LPP, and three (3%) only LPP-HMGA2. DNA sequencing analysis demonstrated that the HMGA2-LPP transcript in 19 lipomas consisted of exons 1-3 of HMGA2 and exons 9-11 of LPP, which was described previously. Out of 13 lipomas with LPP-HMGA2 transcript, 9 were associated with a previously reported LPP-HMGA2 fusion transcript, which fuses exon 8 of LPP to exon 4 of HMGA2, while 4 with a novel type of LPP-HMGA2 fusion transcript, which fuses exon 7 of LPP to exon 4 of HMGA2. CONCLUSION: In addition to the HMGA2-LPP fusion gene, the LPP-HMGA2 fusion gene could have some specific roles for lipomagenesis. The biological implications of the expression and the variation of LPP-HMGA2 fusion transcripts need to be elucidated.

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.

Growth and differentiation factor 5 (GDF5) has been implicated in chondrogenesis and joint formation, and an association of GDF5 and osteoarthritis (OA) has been reported recently. However, the in vivo function of GDF5 remains mostly unclarified. Although various human GDF5 mutations and their phenotypic consequences have been described, only loss-of-function mutations that cause brachypodism (shortening and joint ankylosis of the digits) have been reported in mice. Here, we report a new Gdf5 allele derived from a large-scale N-ethyl-N-nitrosourea mutagenesis screen. This allele carries an amino acid substitution (W408R) in a highly conserved region of the active signaling domain of the GDF5 protein. The mutation is semi-dominant, showing brachypodism and ankylosis in heterozygotes and much more severe brachypodism, ankylosis of the knee joint and malformation with early-onset OA of the elbow joint in homozygotes. The mutant GDF5 protein is secreted and dimerizes normally, but inhibits the function of the wild-type GDF5 protein in a dominant-negative fashion. This study further highlights a critical role of GDF5 in joint formation and the development of OA, and this mouse should serve as a good model for OA.

Correction of deformity and shortening due to post traumatic epiphyseal arrest by distraction osteogenesis.

Growth arrest in the epiphyseal plate during childhood often causes both periarticular deformities and limb length discrepancy, leading to compartmental osteoarthrosis and gait disturbance or spinal disorders, respectively. Distraction osteogenesis using external fixators with hinge systems appears to be useful for the simultaneous correction of deformity and shortening. In this paper, we evaluated cases of lower limbs with periarticular deformities and limb length discrepancy after epiphyseal plate injury that has been treated by distraction osteogenesis using external fixators. This is the first report regarding the outcomes of distraction osteogenesis for a group of patients having deformity and limb length discrepancy due to traumatic arrest of the physis. Successful outcomes may promise the use of this method as the first choice for the treatment of growth disorders after the arrest of the epiphyseal plate in the lower limbs. However, treatment under 20 years of age may provide a better outcome with a lower incidence of complications.