Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.

Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax. Major radiographic features are egg-shaped capital femoral epiphyses with a short femoral neck and cone-shaped epiphyses, mainly in the hands and hips. To date, only four child patients from two families have been reported. We describe two adult patients with ACFD with a novel homozygous c.478C>T (p.Arg160Cys) mutation in IHH in the third family of the literature. The reported cases showed a middle phalanges which fused with distal phalanges in the fifth toes, the typical configuration of metacarpals, radial angulation and extremely short femoral neck. These findings could help the diagnosis of ACFD in adult patients. We hope that this new family will be a helpful guide for predicting and managing the prognosis of diagnosed children.

Phalangeal Intra-Articular Osteochondroma Caused a Rare Clinodactyly Deformity in Children: Case Series and Literature Review.

Background: Various factors are discovered in the development of clinodactyly. The purpose of this retrospective study was to present a group of children with a rare clinodactyly deformity caused by phalangeal intra-articular osteochondroma and evaluate the efficacy of various treatment methods. Methods: All child patients that were treated for finger problems in our center between Jan 2017 and Dec 2020 were reviewed. A detailed analysis was made of the diagnosis and treatment methods in eight rare cases. X-rays and histopathology were applied. Results: A preliminary analysis of 405 patients in total was performed, and we included eight cases in our final analysis. This cohort consisted of 2 girls and 6 boys, with a mean age of 5.74 ± 3.22 years (range: 2y5m to 11y). Overall, four patients had their right hand affected and four patients had their left hand affected. One patient was diagnosed as having hereditary multiple osteochondroma (HMO) while the other seven patients were all grouped into solitary osteochondroma. Osteochondroma was proven in all of them by histopathology examination. Preoperative X-rays were used to allow identification and surgery planning in all cases. All osteochondromas were intra-articular and in the distal end of the phalanges, which is located opposite the epiphyseal growth area. All of the osteochondromas developed in half side of the phalanges. The angulation in the finger long axis was measured, and resulted in a mean angulation of 34.63 ± 24.93 degree (range: 10.16-88.91 degree). All of them received surgery, resulting in good appearance and fingers straightening. No recurrence was recorded. Conclusions: This retrospective analysis indicates that 10 degrees can be selected as the angulation level for diagnosis of clinodactyly deformities. What's more important, the abnormal mass proven by X-rays should be included as the classical direct sign for diagnosis. The first choice of treatment is surgery in symptomatic osteochondromas.

Kirner's deformity of the fifth finger: A case report.

RATIONALE: Kirner's deformity is an uncommon deformity of finger, characterized by palmo-radial curvature of distal phalanx of the fifth finger. The specific mechanism remains unknown yet. This study aims to present a case report to add the knowledge on this type of deformity. PATIENT CONCERNS: A 9-year-old girl presenting with deformity of her fifth finger since she was born was admitted to our hand surgery clinic. MRI findings showed widened epiphyseal plate, L-shaped physis, but normal flexor digitorum profundus tendon insertion, without any significantly enhanced soft issues. DIAGNOSIS: Kirner's deformity of the fifth finger. INTERVENTIONS: We presented 2 surgical choices for the patient: one was wedge osteotomy of the distal phalanx to correct the mechanical line of the distal phalanx and fixation with Kirschner wire and the other one was cut-off of deep flexor tendon insertion with brace immobilization, but her guardians refused either of them. OUTCOMES: Consecutive follow-up was performed for 19 months after the first visit, showing no any change in finger shape and function. LESSONS: The L-shaped epiphyses may be the cause of Kirner's deformity and further attention should be paid on in the clinic. This case report provided a basis for the etiological diagnosis and future treatment of Kirner's deformity.

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been reported in BHLHA9 associated to MSSD. In this study, we report a patient who presented with clinical and radiological features of MSSD. A customized skeletal dysplasia NGS panel revealed the presence of two novel compounds heterozygous variants in BHLHA9: NM_001164405.1: c.[226A>T][269G>C]; p.[(Lys76*)][(Arg90Pro)]. Thus, this is the first case of MSSD in a nonconsanguineous family.

Analysis of Causes for Congenital Ulnar Deviated Thumbs at the Distal Phalanx Level in 157 Thumbs.

PURPOSE: To investigate anatomic abnormalities causing a congenital ulnarly deviated thumb at the distal phalanx. METHODS: A total of 122 children with 157 congenital ulnarly deviated thumbs at the distal phalanges were reviewed, including those with isolated deformity or polydactyly. We analyzed the incidence and characteristics of the underlying anatomic abnormalities as well as the differential diagnoses. RESULTS: Three main causes of an ulnarly deviated thumb were observed. Abnormal hypertrophic epiphyses were found in 96 thumbs. An extra phalanx lying between the normal proximal and distal phalanges was found in 59 thumbs. A previously undescribed cause was found in 2 thumbs with Wassell IV polydactyly, in which an obliquely angled articular surface of the proximal phalanx manifested with ulnar deviation at the interphalangeal joint. Radiographic analysis showed that in cases with abnormal epiphyses, the epiphysis was in good apposition and good alignment with its relevant distal phalanx; the distance from the abnormal epiphysis to the phalanx was usually less than 1 mm. In contrast, in cases of extra phalanges, the distance from the epiphysis to the phalanx averaged more than 2 mm and there was poor apposition between the distal phalanx and the extra bone. CONCLUSIONS: Abnormal hypertrophic epiphysis and triphalangeal thumb are the 2 main causes of a congenital ulnarly deviated thumb. A distance of more than 2 mm between the abnormal bone and the distal phalanx suggests a triphalangeal thumb. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Physiolysis for correction of clinodactyly with delta phalanx: Early improvement.

Congenital clinodactyly known as "delta phalanx" is a congenital finger deviation caused by a middle phalanx abnormality. Progressive realignment can be achieved with normal growth through physiolysis according to Vickers. The purpose of this investigation was to identify the rate of correction in congenital clinodactyly following epiphyseal bar resection.We studied retrospectively 24 fingers in 14 patients aged from 14 months to 11 years old (y/o), operated on by two surgeons performing epiphyseal bar resection using a modified Vickers' method. Angle measurements were compared pre-operatively, at 1 year and at the final follow-up. The rate of correction was evaluated at each time point. The cohort was divided into two groups: surgery < 6 y/o and ≥ 6 y/o. Statistical analyses were conducted to compare the patient groups.The mean deviation decreased from 33° pre-operatively (20°-80°) to 17.2° (0°-40°) at 1 year after surgery. The deviation at the last follow-up decreased to 10.6° (0°-40°). Seventy percent of the operated fingers were completely corrected (angle ≤ 10°) at the latest follow-up visit. No difference was found regarding the age at surgery. There were two cases of premature fusion of the epiphyseal plates. Regardless of the patient's age, Vickers' procedure is a simple and effective solution for treating delta phalanx with early correction. Our data suggest that physiolysis is a successful surgery in patients up to 11 years old. LEVEL OF EVIDENCE: Level IV, therapeutic case series.

Untethering physiolysis for delta phalanx (longitudinally bracketed diaphysis) combined with free fat interposition graft.

We report the results of physiolysis of the epiphyseal bracket combined with free fat grafting for the treatment of delta phalanx. Thirteen cases (five patients) were included. Mean patient age was 6.6years (range, 4-9). The patients underwent physiolysis in which the epiphyseal bracket was cut and replaced with a free fat graft. The angle between the long axis of the proximal and distal phalanges and the ratio between the width and length of the affected middle phalanx were evaluated on plain radiographs. The range of motion in the fingers was also evaluated. The mean follow-up period was 42.2months (range, 25-61). The mean correction angle was 17.1° (range; 13-23). The mean width-to-length ratio of the affected phalanx was improved from 0.6 to 0.47. The range of motion was maintained at the previous level. Physiolysis by untethering the bracketing epiphysis and free fat grafting can alleviate the angulation of clinodactyly, especially in growing children. It also allows catch-up growth in the middle phalanx.

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, prematurity, and perinatal death in three of 11 patients in the series. The survivors presented with characteristic radiographic findings that were observed among those with lethality, including bent bones, distinctive (moustache-shaped) small clavicles, angel-shaped metacarpals and phalanges, poor mineralization of the calvarium, and craniosynostosis. Craniofacial abnormalities, hirsutism, hepatic abnormalities, and genitourinary abnormalities were noted as well. Longer-term survivors all needed ventilator support. Heterozygosity for mutations in the gene that encodes Fibroblast Growth Factor Receptor 2 (FGFR2) was identified in the nine individuals with available DNA. Description of these patients expands the prenatal and postnatal findings of Bent Bone Dysplasia-FGFR2 type and adds to the phenotypic spectrum among all FGFR2 disorders. © 2016 Wiley Periodicals, Inc.

Phalangeal Lengthening Techniques for Brachydactily and Posttraumatic Digital Stumps With the Use of a Modified External Mini-Fixator.

Distraction osteogenesis has become the most used method for bone lengthening and deformity correction including the bones of the hand and foot. The principle techniques used for hand bone lengthening in posttraumatic and congenital conditions using available external fixators are based on this method. We present the technical specifications and surgical techniques with the use of a mini-fixator that was specially designed for short tubular bones. The surgical techniques of lengthening and web space skin stock creation for future web-pasty are supplied with the diagrams of their application to phalanges and illustrative clinical cases. Between 1999 and 2012, this mini-fixator was used for lengthening of 223 finger segments at our hospital and provided improvement of the hand esthetics and functions.

Anormalidades esqueléticas da síndrome tricorrinofalangiana tipo I / Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I

Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.

Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.

Syndrome in Question.

The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Pfeiffer syndrome (MIM: #101600) is a rare autosomal dominant disorder classically characterized by limb and craniofacial anomalies. It is caused by heterozygous mutations in the fibroblast growth factor receptors types 1 and 2 (FGFR1 and FGFR2). We applied a next generation sequencing (NGS) panel approach comprising all 2877 genes currently known to be causative for one or more Mendelian diseases combined with the phenotype based computational tool PhenIX (Phenotypic Interpretation of eXomes). We report on a patient presenting with multiple anomalies of hands and feet including brachydactyly and symphalangism. No clinical diagnosis could be established based on the clinical findings and testing of several genes associated with brachydactyly and symphalangism failed to identify mutations. Via next generation sequencing (NGS) panel approach we then identified a novel de novo missense FGFR2 mutation affecting an amino acid reported to be mutated in Pfeiffer syndrome. Since our patient shows typical radiological findings of Pfeiffer syndrome in hands and feet but at the same time lacks several characteristic features such as clinical signs of craniosynostosis and prominent eyes we suggest introducing the term "FGFR2 associated phenotypes" for similar cases. Our results highlight the emerging role of combined NGS and phenotype based bioinformatics strategies to establish clinical diagnoses.

Syndrome in question

Abstract The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.

Outcomes of opening wedge osteotomy to correct angular deformity in little finger clinodactyly.

PURPOSE: To evaluate the outcomes and complications in a series of children with clinodactyly treated with opening wedge osteotomy of the abnormal phalanx. METHODS: We performed a retrospective review of all children with clinodactyly treated at our institution with opening wedge osteotomy of the abnormal middle phalanx between 2003 and 2013. Patients with concomitant pathology or prior surgery in the affected finger were excluded. Preoperative and postoperative clinical angle, radiographic angle, digital range of motion, and pain were compared and complications were recorded. RESULTS: We included 13 digits in 9 patients. All had greater than 20° of preoperative clinical angulation (mean, 36°). Mean age at time of surgery was 11 years; mean duration of follow-up was 25 months (range, 12-43 mo). All digits had significant improvement (mean, 32°) in clinical and radiographic angles after surgery. This improvement was maintained at final follow-up in 12 digits. Six patients had pain preoperatively and no patient had pain postoperatively. One digit had a recurrent deformity at final follow-up and 3 digits developed stiffness at the distal interphalangeal joint. CONCLUSIONS: Opening wedge osteotomy is an effective treatment for angulation in children with clinodactyly. We counsel families regarding the risk of distal interphalangeal joint stiffness. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Apert Syndrome.

Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

The transverse bone in cleft hand: a case cohort analysis of outcome after surgical reconstruction.

PURPOSE: To evaluate the implications of the transverse bone in cleft hand by assessing outcomes after reconstruction in comparison with a control group. METHODS: This study is a retrospective review of 23 hands in 18 patients following surgical reconstruction of the cleft hand. Eleven hands had a transverse bone component, and 12 hands (control group) did not. Patients and their families were contacted to assess overall satisfaction following reconstruction. Clinical and radiographic records were reviewed to assess aesthetic and functional outcomes, the need for additional surgery, and radiographic divergence angles. RESULTS: There was no difference in aesthetic or functional subjective outcomes. There was no statistically significant difference in any objective outcome measure between the two groups. The use of the cleft for pinch was more dependent on the status of the index finger and the preoperative thumb-index webspace rather than the presence of a transverse bone. Eleven (4 transverse and 7 control) hands required additional surgery to address abnormal function or posture of the index and ring fingers. Preoperative radiographic divergence angles were larger in the transverse bone group than in the control group, whereas postoperative divergence angles were nearly equivalent. CONCLUSIONS: Similar outcomes between the two groups demonstrate that the presence of a transverse bone in cleft hand was not associated with worse outcomes following cleft reconstruction. Preoperative narrowing of the thumb webspace and postoperative index finger metacarpophalangeal joint abnormality are associated with worse functional outcomes. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic Level III.