[Total Hip Arthroplasty in the Treatment of Dwarfism Complicated with Bilateral Hip Dysplasia:Report of One Case].

The clinical data of a female patient with dwarfism complicated with developmental dysplasia of the hip(DDH) treated in the Department of Joint Surgery of the First Affiliated Hospital of Hainan Medical College in September 2019 was analyzed.We summarized the experience in the treatment and reviewed the latest literature to determine the reasonable method for clinical diagnosis and treatment of dwarfism complicated with DDH.The improved lower limb function and satisfactory recovery of this patient after operation indicated that the treatment scheme was effective.Total hip arthroplasty is an effective method for the treatment of dwarfism complicated with DDH.Wagner prosthesis(SL-Cone)can achieve satisfactory short-term clinical results.

Conventional cementless total hip arthroplasty in patients with dwarfism with height less than 140 cm and minimum 10-year follow up: A clinical study.

BACKGROUND: Orthopedic complications can cause issues and severe disability in patients with dwarfism. Thus, these individuals frequently undergo total hip arthroplasty to mitigate decline in daily functioning. Although studies have reported on the difficulties of orthopedic surgery in patients with dwarfism, many do not clearly define dwarfism and have a short follow-up period. We aimed to retrospectively investigate the clinical and radiographic results of total hip arthroplasty for patients with dwarfism. METHODS: A total of 68 hips of 49 patients with height <140 cm and at least 10-year follow-up periods were enrolled. All patients had conventional cementless implants. All hips were evaluated using the Japanese Orthopaedic Association hip score. RESULTS: The main hip disease etiologies were primary hip osteoarthritis (58%) and secondary osteoarthritis due to developmental dysplasia (31%). Rheumatoid arthritis, rapidly destructive coxarthrosis, spondyloepiphyseal dysplasia, childhood infection, and femoral head aseptic necrosis were also causative pathologies. Hip scores significantly improved from 44 to 82 out of 100. Overall implant-associated survival rate after 10 years was 94.1%. Cup loosening was observed in 2 hips, and subsidence >5 mm was observed in 9 hips. Presence of Crowe IV in hips was a significant risk factor for total hip arthroplasty in patients with dwarfism (p < 0.05); leg lengthening had a weak but significant correlation (r = 0.253, p < 0.05). CONCLUSIONS: Total hip arthroplasty using conventional cementless implants for patients with dwarfism shows good clinical and radiological outcomes and has a relatively low perioperative risk.

Midterm Survivorship and Complications of Total Knee Arthroplasty in Patients With Dwarfism.

BACKGROUND: Dwarfism is associated with skeletal dysplasias and joint deformities that frequently result in osteoarthritis requiring treatment with total knee arthroplasty (TKA). These surgeries can be challenging because of alignment deformities, poor bone stock, and smaller components. This study aims to compare TKA implant survivorship and complications between dwarf and nondwarf patients. METHODS: A retrospective case-control study was performed from 1997-2014 evaluating 115 TKAs in patients under the height threshold of 147.32 cm. This cohort was compared with 164 patients of normal height. Medical records were reviewed for demographics, surgical characteristics, and outcomes. All cases had 2-year minimum follow-up. RESULTS: The revision rate was 8.7% in dwarfs compared with 3.7% in controls (P = .08). The 2-, 5-, and 10-year implant survivorship in dwarfs was 96.4%, 92.5%, and 90.2%, respectively; and 96.6%, 95.6%, and 94.8% for controls, respectively (P = .24). Dwarfs underwent significantly more manipulations for arthrofibrosis (P = .002). There was greater femoral (17.4% vs 2.1%, P < .01) and tibial (6.5% vs 2.7%, P < .01) component overhang in dwarfs compared with controls. CONCLUSION: Despite a 2-fold increase in the revision rate of the dwarf cohort, the midterm survivorship is comparable between the dwarf and nondwarf patients. However, dwarfs were more likely to become stiff and undergo manipulation; the increased propensity for stiffness may be associated with oversized components, as evidenced by greater component overhang. Surgeons should be aware of this increased risk and may consider using smaller or customized implants to account for the morphological differences in this patient population.

Anesthetic management for Cesarean delivery in parturients with a diagnosis of dwarfism.

PURPOSE: The literature on the anesthetic management of parturients with dwarfism is sparse and limited to isolated case reports. Pregnancy complications associated with dwarfism include an increased risk of respiratory compromise, an increased risk of Cesarean delivery, and an unpredictable degree of anesthesia with neuraxial techniques. Therefore, we conducted this retrospective review to evaluate the anesthetic management of parturients with a diagnosis of dwarfism. METHODS: We used a query of billing data to identify short statured women who underwent a Cesarean delivery during May 1, 2008 to May 1, 2013. We then hand searched the electronic medical record for qualifying patients with heights < 148 cm and a diagnosis of dwarfism. The extracted data included patient demographics and obstetric and anesthetic information. RESULTS: We identified 13 women with dwarfism who had 15 Cesarean deliveries in total. Twelve of the women had disproportionate dwarfism, and ten of the 15 Cesarean deliveries were due to cephalopelvic disproportion. Neuraxial anesthesia was attempted in 93% of deliveries. The dose chosen for initiation of neuraxial anesthesia was lower than the typical doses used in parturients of normal stature. Neuraxial anesthetic complications included difficult neuraxial placement (64%), high spinal (7%), inadequate surgical level (13%), and unrecognized intrathecal catheter (7%). CONCLUSIONS: The data collected suggest that females with a diagnosis of dwarfism may have difficult neuraxial placement and potentially require lower dosages of local anesthetic for both spinal and epidural anesthesia to achieve adequate surgical blockade.

Total Hip Arthroplasty in Patients with Skeletal Dysplasia.

127 patients with a height ≤ 150 cm (non metric ≤ 4 feet and 11 inches) who received hip arthroplasty surgery between July 1, 2006 and May 30, 2013 at our institution were enrolled. Retrospective data evaluation was performed for two different times of follow-up (1 year and 5 years respectively). 115 patients were evaluated for 1-year follow up. Out of these, 27 patients were available for 5-year follow up. The mean Harris Hip Score increased from 40 ± 13 on admission to 82 ± 20 (P<0.001) at 1-year follow-up and 79 ± 17 (P<0.001) at 5-year follow-up. Hip arthroplasty can be performed in patients with dwarfism with good clinical benefits. However, survival rates are worse compared to the general population.

Total knee arthroplasty in patients with skeletal dysplasia.

INTRODUCTION: Dwarfism is a challenge in arthroplasty. The anatomical features provide a lot of pitfalls. The aim of this study was to follow-up growth-restricted patients after endoprosthetic treatment. MATERIALS AND METHODS: 138 knee arthroplasties in patients with a height ≤150 cm between January 1, 2000 and May 5, 2013 at our institution were enrolled in this study. 124 cases were available for 1-year follow-up. Out of these, 43 cases were available for 5-year follow-up so far. 14 patients were lost to follow-up. RESULTS: IKS score increased from 35 ± 16 on admission to 67 ± 22 (p < 0.001) at 1-year follow-up and 65 ± 23 (p < 0.001) at 5-year follow-up. Function Score increased from 40 ± 29 on admission to 64 ± 21 (p < 0.001) at 1-year follow-up and 63 ± 23 (p < 0.001) at 5-year follow-up. Revision surgery was required in one case (0.8 %) after 1-year follow-up, and in an additional three cases (7 %) after 5-year follow-up. CONCLUSIONS: Knee arthroplasty can be performed in patients suffering from dwarfism with good clinical benefits. However, survival rates are worse compared to the general population.

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

INTRODUCTION: Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment. METHODS: Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination. RESULTS: Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology. CONCLUSIONS: Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara. LEVEL OF EVIDENCE: Level IV.

The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients.

BACKGROUND AND PURPOSE: Distraction osteogenesis (DO) has been used to gain height in short statured individuals. However, there have been no studies comparing the clinical outcome of limb lengthening based on the etiology of the short stature. We assessed whether different underlying diagnoses are associated with varied clinical outcomes in these patients. METHODS: We performed a systematic review of the literature pertaining to lower limb lengthening using external fixation for short stature. Clinical outcomes including amount of lengthening, healing index (HI), and complications based on the underlying diagnosis for the short stature were documented. RESULTS: 18 clinical studies were included, with 547 patients who underwent 1,581 lower limb segment lengthening procedures. Mean follow-up was 4.3 years. The average age at lengthening was less for individuals with achondroplasia/hypochondroplasia (A/H) (14.5 years) than for those with Turner's syndrome (TS) (18.2 years) or with constitutional short stature (CSS) (21.7 years). Mean height gained was greater in patients with A/H (9.5 cm) than in those with TS (7.7 cm) or CSS (6.1 cm) group. The HI was better in A/H (30.8 days/cm) and CSS (32 days/cm) than in TS (45.1 days/cm). The reported complication rate per segment was lower for A/H (0.68) and TS (0.71) than for CSS (1.06). INTERPRETATION: Patients with A/H tolerated larger amounts of lengthening with fewer complications than those with other diagnoses.

Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.

BACKGROUND: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal developmental delay, and gradually presents with variable facial dysmorphisms, a short stature, amelogenesis imperfecta, and progressive skeletal dysplasia affecting the limbs, joints, hands, feet, and spine. CASE PRESENTATION: We identified a homozygous novel nonsense mutation in exon 1 of SLC10A7 (NM_001300842.2: c.100G > T / p.Gly34*) segregating with the typical disease phenotype in a Han Chinese family. We reviewed the 12-year surgical treatment history with seven interventions on spine. CONCLUSION: To date, only 12 cases of the SLC10A7 mutation have been reported, mainly from consanguineous families. Our patient showed a relatively severe and broad clinical phenotype compared with previously reported cases. In this patient, annual check-ups and timely surgeries led to a good outcome.

Tibial lengthening over an intramedullary nail in patients with short stature or leg-length discrepancy: a comparative study.

PURPOSE: The aim of this study was to review our experiences with tibial lengthening over an intramedullary nail in comparison to the conventional Ilizarov method. METHODS: We performed a retrospective comparison of tibial lengthening using the conventional Ilizarov method (group A: 23 limbs in 13 patients) versus over a nail (group B: 51 limbs in 26 patients). The percentage increase in tibial length, lengthening index, external fixation index, consolidation index and complications were assessed. RESULTS: The mean gain in tibial length was 7.4 cm, which represents a mean increase of 26.0%. There was no difference in lengthening index or consolidation index; however, the patients in group A wore the external fixator longer than those in group B (281.5 versus 129.0 days), which represents a larger external fixation index (40.0 versus 17.4 day/cm). Group A had a higher complication rate (1.0 versus 0.47 per tibia) than group B. CONCLUSIONS: Tibial lengthening over an intramedullary nail confers advantages over the conventional Ilizarov method, including shorter time needed for external fixation and lower complication rates.

Custom total hip arthroplasty in skeletal dysplasia.

PURPOSE: Osteochondrodysplasias are characterised by aberrant cartilage and bone development; consequently, patients may be subject to premature hip degeneration. In this population hip arthroplasty outcomes are variable. This series reviews the use of custom femoral implants in total hip replacements for patients with severe skeletal dysplasia. METHODS: We reviewed 14 hips in nine patients with genetic dwarfism. Computed tomography (CT) scans of the pelvis and femurs were used to create custom titanium stems. Postoperative radiographs were reviewed for migration, osteolysis, fracture and restoration of leg length. Pre- and postoperative Harris hip scores (HHS) were compared, with a mean follow-up of 36.3 months. Mean age was 36.5 years (range 15-50 years) and mean height was 48 inches (range 42-55 inches). Three joints were classified as Crowe type I, two type II, three type III and six type IV. RESULTS: Three hips (21%) required revision: two for stem migration and one for acetabular osteolysis. Eleven hips (79%) were stable with signs of osseointegration. No fractures, nerve damage or dislocations occurred. Two stems required cement fixation, and no liners were constrained. Significant osteolysis was seen on three radiographs. All patients walked independently, and mean HHS improved from 45 (24-58) to 71 (47-89). All leg length discrepancies were restored to within 3 mm of equal. CONCLUSIONS: This study reports good midterm outcomes in a variety of skeletal dysplasias, thus confirming the efficacy of custom femoral implants in the management of this patient group.

Microdeletion 3q syndrome.

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life.

[Use of Parker Flex-Tip tracheal tube in a patient with Kniest dysplasia].

A 37-year-old man with Kniest dysplasia and thoracic myelopathy was scheduled for T3-12 laminectomy. Kniest dysplasia is a severe chondrodysplasia characterized by short trunk and limbs. Awake fiberoptic intubation was attempted to prevent airway obstruction because we had predicted his difficult airway. During fiberoptic tracheal intubation, we easily succeeded in the insertion of the fiberscope itself into the trachea, but were not able to insert the tip of a reinforced tube into the trachea, because the tip of the reinforced tube impinged on laryngeal structures. We succeeded in placing the Parker Flex-Tip tracheal tube into the trachea. We considered that the Parker Flex-Tip tube, having a tip that reduces the gap between the fiberscope and the inside of the tube, resulted in success of the passage of the tube into the trachea during fiberoptic intubation.

3D printed models can guide safe halo pin placement in patients with diastrophic dysplasia.

PURPOSE: To trial the use of three-dimensional (3D) printed skull models to guide safe pin placement in two patients with diastrophic dysplasia (DTD) requiring prolonged pre-fusion halo-gravity traction (HGT). METHODS: Two sisters aged 8 (ML) and 4 (BL) with DTD were planned for staged fusion for progressive kyphoscoliosis. Both sisters were admitted for pre-fusion HGT. Models of their skulls were generated from computer tomography (CT) scans using Mimics Innovation Suite and printed on a Guider II in polylactic acid. The 3D models were cut axially proximal to the skull equator, in-line where pins are usually inserted, allowing identification of the thickest skull portion to guide pin placement. RESULTS: Eight pins were inserted into each patient's skull. Postoperative CT scans demonstrated adequate pin position. Pre-traction Cobb angles were 122° and 128° for ML and BL, improving to 83° and 86° following traction. Duration of HGT was 182 and 238 days for ML and BL. Prior to fusion, both patients returned to theatre twice for exchange of loose pins and there was one incidence of pin site infection. Surgery was performed via a posterior instrumented fusion. Postoperatively, both patients remained in their halos for 3 months. One pin in BL was removed for loosening. Both patients achieved fusion union by 9 months. CONCLUSION: 3D models of the skull can be a useful tool to guide safe pin placement in patients with skeletal dysplasias, who require prolonged pre-fusion HGT for severe deformity correction.

Revision Arthroplasty with Total Femur Replacement for the Management of Complex Post-traumatic Bone Defect in a Patient with Dwarfism. / Revisionsendoprothetik mit Totalfemurendoprothese zur Behandlung komplexer posttraumatischer Knochendefekte bei einem Patienten mit Zwergwuchs.

Dwarfism leads to an early onset of osteoarthritis of the joints of the lower limb. Due to bone deformities, arthroplasty is challenging. The incidence of implant-associated complications is higher compared to the normal population and often ends up with multiple revision arthroplasties. We report the first case in the literature of a 48-year-old patient with dwarfism who required implantation of a custom-made total femoral replacement due to aseptic stem loosening and a concomitant valgus gonarthrosis.

Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.

BACKGROUND: Microcephalic primordial dwarfism (MPD) is a heterogeneous group of rare disorders. Recent studies have reported a significant percentage of patients with MPD suffering from a spectrum of cerebrovascular abnormalities, including intracranial aneurysms (IAs) and moyamoya syndrome. The neurological literature has not as yet specifically assessed IAs in this population. This systematic review aimed to assess the clinical behavior, characteristics, treatment modalities and outcomes of IAs in patients with MPD. METHODS: We performed a systematic search in PubMed, Ovid MEDLINE and Ovid EMBASE for cases of MPD with IAs. We included three illustrative cases from our institution. RESULTS: Twenty-four patients with 71 aneurysms were included in this study. Twelve patients (50%) presented with subarachnoid hemorrhage. The majority of patients were aged ≤18 years (70.8%), with a mean age of 16.2 years at presentation. Median aneurysm size was 3 (IQR 1.8-6) mm, and the most frequent locations were the internal carotid (37.3%) and middle cerebral arteries (23.8%). Concomitant moyamoya disease was reported in nine (37.5%) patients. Median age of aneurysm detection in screened patients was significantly lower than in non-screened patients (P=0.02). Microsurgical clipping (55.3%) and endovascular coiling (26.3%) were the most used modalities. Twenty-two cases were managed conservatively. Overall, mortality occurred in 45.8% of cases. CONCLUSIONS: Screening for cerebrovascular disease seems reasonable and effective to detect aneurysms at an earlier age in this population. Efforts in the literature to emphasize early and regular screening for these patients can positively impact outcomes in this population, however more evidence is needed.

Moyamoya disease in children with congenital dwarfing conditions.

Congenital dwarfisms can be associated with a variety of vascular anomalies. Here, we describe 2 patients with congenital dwarfisms who presented with moyamoya syndrome and underwent indirect intracranial revascularization. The pathogenesis of moyamoya syndrome in this population is not well understood, but it is a major cause of stroke and early death in these patients, making their timely diagnosis and management critical.

Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.

CASE: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime. CONCLUSION: OSMED is a very rare syndrome. Arthritis and joint pains presented in her early adolescence and progressed to the point of requiring joint replacements by her 20s. Early intervention and monitoring improved the quality of life for this patient.

Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia.

STUDY DESIGN: Case report. OBJECTIVE: To describe the importance of preoperative halo-gravity traction and posterior vertebral column resection (PVCR) for severe proximal thoracic kyphoscoliosis associated with Desbuquois dysplasia, after breakage of a growing rod construct. Desbuquois dysplasia is a rare, autosomal recessive chondrodysplasia characterized by short stature, joint laxity, kyphoscoliosis, and characteristic facial dysmorphism. Our 8-year-old patient developed severe, progressive, infantile-onset kyphoscoliosis and had been initially treated with Vertical Expandable Prosthetic Titanium Rib (VEPTR) rods. She subsequently underwent growing rod placement, but the eventual rod fracture resulted in a severe angular kyphosis. METHODS: Clinical and radiographic case review. RESULTS: The broken implants were removed, and she was treated with 2.5 months of preoperative halo-gravity traction. She then underwent a T4 PVCR and C7-L4 instrumented posterior spinal fusion. The patient had an uneventful postoperative course without any neurologic problems. Two years postoperatively, correction was well maintained with appropriate alignment and balance without implant breakage. CONCLUSION: To our knowledge, this is the first report of treatment of spinal deformity associated with Desbuquois dysplasia. Our results suggest that preoperative halo-gravity traction and PVCR are safe and efficacious techniques for severe rigid kyphoscoliosis in the cervicothoracic region associated with broken growing rods in a patient with Desbuquois dysplasia. LEVEL OF EVIDENCE: Level IV.

The Management of Kyphosis in Metatropic Dysplasia.

DESIGN: Retrospective review. OBJECTIVE: To describe the presentation and progression, and compare treatments of severe thoracic kyphosis in a cohort of patients with metatropic dysplasia. SUMMARY OF BACKGROUND DATA: Metatropic dysplasia is a rare skeletal dysplasia characterized by several abnormalities, including severe platyspondyly and vertebral wedging. These lead to marked kyphoscoliosis that begins in the first year of life and progresses to a stiff, short thorax and restrictive lung disease. There is no study that specifically addresses treatment of kyphosis in this cohort. METHODS: A 12-year retrospective chart review at a single institution was performed to identify metatropic dysplasia patients. Comparison between four main treatment groups-observation, bracing, anterior release and growing construct, and anterior release and final fusion-were made radiographically with regard to thoracolumbar, T2-T12, and major Cobb kyphosis; sagittal vertical alignment; and C7-kyphosis apex distance, taken at presentation, pre- and posttreatment, and final follow-up. RESULTS: Twenty patients with metatropic dysplasia presented at an average age of 3.1 years with a kyphosis of 75°, and were followed an average of 8.5 years. Those treated surgically presented with an average of 86.7° kyphosis, 88 mm C7-kyphosis apex distance, and 50 mm positive sagittal vertical alignment (SVA). Postsurgical reduction of kyphosis averaged 43° with less than 4° loss of correction in all groups except the constructs involving rib fixation. Recent use of staged thoracoscopic anterior soft tissue release, halo traction, and growing rod construct has produced the most dramatic results with average kyphosis correction of 71° and evidence of anterior bony remodeling. In those treated with observation, kyphosis progressed less than a quarter degree per year. CONCLUSIONS: Thoracic kyphosis in metatropic dysplasia does not uniformly progress in all patients and therefore can be initially observed. In those who progress, several surgical options exist including growth-friendly constructs that have demonstrated success without a higher rate of complications. LEVEL OF EVIDENCE: Level IV.