The efficacy of gradual reduction using two-stage traction for developmental dysplasia of the hip in southern China.

Purpose: This study aimed to report the preliminary outcome of gradual reduction (GR) utilizing two-stage traction (TST) compared with traditional traction (TT) in the treatment of developmental dysplasia of the hip (DDH) and to evaluate whether the prognosis of the TST is better than that of TT. Methods: The following information on children diagnosed with DDH who underwent treatment with GR using two-stage traction or traditional traction between June 2016 and August 2017 was collected: sex, age, weight, acetabular index (AI), International Hip Dysplasia Institute (IHDI) classification, femoral head ossification, traction time, reduction quality, and labrum shape in arthrography. The AI, IHDI classification, second operation rate, and incidence of femoral head avascular necrosis (AVN) were analyzed after the final comprehensive 1-year follow-up. Results: In this study, 27 cases (31 hips: 18 left and 13 right) were enrolled, with 18 hips (16 cases) assigned to the TT group and 13 hips (11 cases) assigned to the TST group, with the corresponding average age at diagnosis of 5.56 ± 1.66 and 4.06 ± 1 months (p < 0.001). For both TT and TST groups, the average age at operation was 6.01 ± 1.67 and 65 ± 0.86 months (p = 0.435), the distribution of affected left and right sides was 10/8 and 8/5 hips (p = 1), and the average initial AI was 37.11 ± 3.26 and 36.77 ± 4.34 (p = 0.804), respectively. IHDI classification III/IV was observed in 15/3 and 11/2 hips, respectively (p = 1). Femoral head ossification was present in 6/18 hips in the TT group and 2/13 hips in the TT group (p = 0.412). The total traction time was 13.22 ± 2.6 days for the TT group and 49.23 ± 25.77 days for the TST group (p < 0.001). After GR, IHDI classification III/IV was observed in 9/9 and 12/1 hips, respectively (p = 0.02). AVN was present in 5/18 hips in the TT group and 0/13 hips in the TST group (p = 0.048), while the need for a second operation was approved in 5/18 hips in the TT group and 1/13 hips in the TST group (p = 0.359) at the final follow-up. Conclusions: Two-stage traction can significantly decrease the ratios of IHDI classifications III and IV and the incidence of AVN compared to traditional traction; also, it significantly reduces the total traction time.

The benefit of rhGH therapy in a Chinese child with 12q14 microdeletion syndrome: a case report.

OBJECTIVES: The 12q14 microdeletion syndrome is a rare genetic condition characterized by intrauterine growth restriction, proportionate short stature, failure to thrive, and intellectual disability. Few reports have discussed the therapeutic aspect of patients with 12q14 microdeletion syndrome. Herein, we report the first case of 12q14 microdeletion patient treated with rhGH without growth hormone deficiency. CASE PRESENTATION: The patient presented with feeding difficulties during infancy, failure to thrive, intellectual disability and subtle dysmorphic facial features. The patient first visited the clinic at 5 years and 3 months, his height was 91.4 cm (-4.9 SD) and weight 10.0 kg (-2.86 SD). The growth hormone level was within the normal range. Bone radiological testing revealed no significant abnormalities. Genetic analysis identified a 6.97 Mb deletion at the chromosome 12q14.1-q14.3 region in the proband. Recombinant human growth hormone therapy was initiated, which lasted for 12 months, and the new height was 101.0 cm (-4.0 SD) and weight 12.0 kg (-3.6 SD). CONCLUSIONS: This report first showed that patient with 12q14 microdeletion, although without growth hormone deficiency, can benefit from human growth hormone therapy.

Psychomotor development and attention problems caused by a splicing variant of CNKSR2.

BACKGROUND: Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in synaptic function. CASE PRESENTATION: Whole-exome sequencing was applied to detect pathogenic variants in a patient with clinical symptoms of psychomotor development, attention deficit, poor logical thinking ability, and an introverted personality, but without epilepsy or any significant electroencephalogram changes. Genetic study revealed a splicing mutation (c.1904 + 1G > A) and RT-PCR revealed aberrant splicing of exon 16, leading to a reading-frame shift and a truncated protein in the PH domain. CONCLUSIONS: This is the first report of a splicing variant of CNKSR2, and the unique clinical features of this pedigree will help extend our understanding of the genetic and phenotypic spectra of CNKSR2-related disorders.

Clinical study of anterior hip ultrasound (van Douveren's method)-assisted Pavlik harness.

PURPOSE: To investigate the use of anterior hip ultrasound (van Douveren's method)-assisted Pavlik harness in developmental dysplasia of the hip (DDH). METHODS: Weekly anterior hip ultrasound scanning was performed in children with fixed Pavlik harness to detect whether hip reduction was achieved with the help of harness (the superior ramus of the pubis, the acetabulum, the femoral head, and the femoral neck being depicted in one plane indicated concentric reduction of the hip), and the stability of the reduction was checked by ultrasonography. RESULTS: A total of 39 child patients and 51 dysplastic hips were successfully detected by anterior ultrasound, and stable reduction was achieved in 37 hips (15 Graf type D and 22 type III) right after the help of Pavlik harness, in seven hips (6 type III and 1 type IV) two weeks after the help of Pavlik harness; the remaining seven hips (2 type III and 5 type IV) failed to reach stable reduction after two weeks. CONCLUSION: The anterior hip ultrasound (van Douveren's method) can be used to detect the reduction and stability of hip after Pavlik harness treatment in children with DDH. The majority of Graf type D and III hips can achieve a stable concentric reduction right after the help of Pavlik harness, while severely dislocated type IV hips have a low success rate for harness treatment, and abandonment of harness therapy should be considered in early stage.

Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.

Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can take a long time to obtain a definitive clinical diagnosis unless clinicians are familiar with the disease. In the present study, whole-exome sequencing (WES) was performed to screen for causal variants in a Chinese pediatric patient who exhibited a number of clinical symptoms of ASS, including short stature, facial abnormalities, stubby metacarpals and swollen testis. DNA sequencing revealed a novel c.1270 A>G mutation in exon 6 of the FGD1 gene, which led to an amino acid conversion of asparagine to aspartic acid on codon 424 and in silico analysis indicated that this novel missense mutation was pathogenic. The present study identified a novel variant of the FGD1 gene and to the best of our knowledge, is the first report of ASS in a Chinese individual. The results indicated that WES is an effective tool for the diagnosis of rare and complex syndromes such as ASS.

Quality of reduction and prognosis of developmental dysplasia of the hip: a retrospective study.

INTRODUCTION: Using limited MRI we evaluated the quality of closed reduction and prognosis in a group of patients with developmental dysplasia of the hip (DDH). METHODS: Limited MRI was performed on 28 DDH patients (41 hips) after closed reduction. All the hips were divided into deep and incomplete concentric reduction groups according to the femoral head-acetabular distance (FAD) and the shape of the labrum on limited MRI. The abduction angle of the hips, and the initial and final acetabular index (AI) were measured. Presence or absence of the ossification centre of the femoral head before treatment, the Tönnis classification and avascular necrosis of the femoral head and types (Bucholz and Ogden type) were recorded. The data of the 2 groups were analysed with SPSS software. RESULTS: We found no significant differences in age, gender, side, preoperative ossification centre of the femoral head, preoperative AI, decreased postoperative AI and abduction angles of hips between the 2 groups. There were significant statistical differences in the preoperative Tönnis grade, FAD after reduction, AI at the final follow-up, severe residual deformity and severe avascular necrosis of the femoral head (p<0.05). The cure rate showed a significant trend (p = 0.052). CONCLUSIONS: Limited MRI enables effective determination of the quality of reduction immediately after closed reduction. The prognosis of the deep concentric reduction group was better than the group with incomplete concentric reduction.

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.

Growth and differentiation factors (GDFs) are secreted signaling molecules within the BMP family that have critical roles in joint morphogenesis during skeletal development in mice and humans. Using genetic data obtained from a six-generation Chinese family, we identified a missense variant in GDF6 (NP_001001557.1; p.Y444N) that fully segregates with a novel autosomal dominant synostoses (SYNS) phenotype, which we designate as SYNS4. Affected individuals display bilateral wrist and ankle deformities at birth and progressive conductive deafness after age 40 years. We find that the Y444N variant affects a highly conserved residue of GDF6 in a region critical for binding of GDF6 to its receptor(s) and to the BMP antagonist NOG, and show that this mutant GDF6 is a more potent stimulator of the canonical BMP signaling pathway compared with wild-type GDF6. Further, we determine that the enhanced BMP activity exhibited by mutant GDF6 is attributable to resistance to NOG-mediated antagonism. Collectively, our findings indicate that increased BMP signaling owing to a GDF6 gain-of-function mutation is responsible for loss of joint formation and profound functional impairment in patients with SYNS4. More broadly, our study highlights the delicate balance of BMP signaling required for proper joint morphogenesis and reinforces the critical role of BMP signaling in skeletal development.

Flexible intramedullary nailing had better outcomes than kirschner wire fixation in children with distal humeral metaphyseal-diaphyseal junction fracture: a retrospective observational analysis.

The effectiveness evaluation of flexible intramedullary nailing (FIN) and kirschner wire fixation (K-wire) used for MDJ fractures fixation have been described in multiple reports. But there have been few reports about comparison between FIN and K-wire in children with distal humeral MDJ fracture. In our retrospective study, Nineteen children received K-wire and twenty children received FIN, during the follow-up, six children in the K-wire group and one children in the FIN group was found to have postoperative cubitus varus; fixation method was an independent risk factor for postoperative cubitus varus (P = 0.001), fixation methods contributed significantly to operation time (t = 6.519, P < 0.001), surgical blood loss (t = 5.349, P < 0.001) and postoperative fracture healing time (t = 4.940, P < 0.001). We can conclude that FIN was related with lower incidence of postoperative cubitus varus, shorter operation time, less surgical blood loss and shorter fracture healing time compared to K-wire in children with MDJ fractures of the distal humerus.

Pre-bent elastic stable intramedullary nail fixation for distal radial shaft fractures in children.

OBJECTIVE: To investigate the functional and radiographic outcomes of pre-bent elastic stable intramedullary nail in treatment of distal radial shaft fractures in children. METHODS: From January 2006 to December 2008, 18 children with distal radial shaft fracture were treated by close reduction and internal fixation with a pre-bent elastic stable intramedullary nail. The age range was from 5 years to 15 years, with an average of 9 years and 8 months. The minimum follow-up was 12 months. RESULTS: All fractures maintained good alignment postoperatively, and 94.4% (17/18) of the patients regained a full range of rotation of the forearm. One patient has limitation of rotation to less than 10°, this had improved by final follow-up. Complications included soft tissue irritation at the site of nail insertion in one patient and transient scar hypersensitivity in another. CONCLUSION: Fixation with a pre-bent elastic stable intramedullary nail is an effective, safe and convenient method for treating distal radial shaft fractures in children.