Mid-term outcomes of one-stage posterior-only jumping hemivertebra resections and short fusions for children with congenital scoliosis secondary to multiple hemivertebrae / 中华骨科杂志

Objective:To evaluate the safety and efficacy of one-stage posterior-only jumping hemivertebra (HV) resection combined with respective short fusions in the treatment of congenital scoliosis (CS) caused by multiple HVs.Methods:All of 13 consecutive patients with multiple HVs treated surgically from January 2010 to December 2017 were retrospectively reviewed, including 4 males and 9 females with a mean age of 3.7±1.2 years. One child had 4 HVs, and the rest had 2 HVs. The responsible HVs causing local scoliosis/kyphosis deformity or coronal plane deviation were selected as the target of resection. The distal HV was removed firstly and then the proximal one was resected; both of the fixation vertebraes were horizontalized during surgery. The clinical and imaging data of the children before the initial operation, immediately after the operation and at the latest follow-up were collected, and the short-term and long-term complications related to surgery were recorded. The data were evaluated on the whole-standing spine anteroposterior and lateral films, including the corrections of proximal and distal main curves, coronal balance, local kyphosis, and the improvement of spinal growth height (upper and lower internal fixation length, T 1-S 1 length). At the same time, the re-progression of coronal and sagittal deformities of the spine during growth was recorded (coronal decompensation: emerging postoperative curve progression more than 20°; kyphosis progression: kyphosis aggravation between upper and lower internal fixation more than 40°) and internal-fixation-related complications (screw cutting, screw malposition) were recorded. Results:Dual HVs were resected in each child, of which 8 (61.5%) were located on contralateral side of the spine, and 5 (38.5%) were located on ipsilateral side of the spine. The follow-up time was 6.2±3.3 years (range 2.0-10.5 years) after surgery. The Cobb angles of proximal and distal main curves were 36.7°±11.8° and 35.2°±7.8° respectively before surgery and were corrected to 9.7°±6.6° and 6.1°±4.1° respectively after surgery ( F=31.249, F=93.83, P< 0.001) ( t=6.888, t=10.954, P<0.001), and the correction rates was 73.6%±19.6% and 82.7%±11.7%, respectively. They were maintained at 14.3°±5.4° and 8.0°±4.6° at the latest follow-up, showing the correction rates loss of 15.8%±26.9% and 6.9%±7%, respectively. The coronal balance improved from 17.2±14.8 mm pre-operatively to -0.2±15.7 mm postoperatively ( t=2.703, P=0.008), and it remained at 0±18.4 mm at the final follow-up ( F=4.137, P=0.024). The T 1-S 1 length was corrected to 273.8±27.3 mm postoperatively, slightly increased compared with pre-operation 256.3±24.0 mm, ( t=0.680, P=0.527), and significantly increased to 333.2±33.4 mm at the latest follow-up ( t=2.986, P<0.001; F=6.704, P=0.003). Seven patients had local kyphosis before operation, which was significantly improved from 32.2°±13.6° to 6.1°±9.8° with a correction rate of 93.4%±27.0% after surgery ( t=3.355, P=0.004), which showed no significant loss of correction at the latest follow-up (5.4°±10.4°) ( F=11.187, P=0.002). Six patients (46.2%) developed coronal decompensation (Curve magnitude >20 °), with an average of 21.7°±1.9°. Two cases (15.4%) had progressive kyphosis between the thoracic regional internal fixations at 3 months after surgery, which were 68° and 58° respectively. After bracing, both coronal decompensation and sagittal kyphosis were improved. At the last follow-up, the coronal decompensation was improved to 14.7±8.9° and the kyphosis was alleviated to 55° and 46°, respectively. Conclusion:Posterior-only skipping hemivertebra resection and short fusion is a safe, effective procedure yielding significantly improvement of the growth imbalance and reginal spinal deformities of CS with multiple HVs. The mid-term follow-up results showed that the progress of the scoliosis was common during the growth period, which could be further controlled by supplementary brace treatment.

Progress in prenatal ultrasound diagnosis of fetal vertebral deformity / 中华全科医师杂志

Congenital vertebral malformation refers to the developmental anomaly of vertebral body during the embryonic stage.Congenital vertebral malformation can cause vertebral kyphosis,scoliosis,spine shortening and other spinal abnormalities as well as thoracic deformities,affecting the quality of life,even threatening the life of the affected children,bringing heavy burden to the family and society.This article reviews the progress in fetal vertebral deformity and its prenatal ultrasound diagnosis.

A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, p.Gln369*, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, p.Gln369*, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

A Case of Campomelic Dysplasia without Sex Reversal

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. He underwent a tracheostomy at the age of three months for severe laryngomalacia after a number of repeated hospitalizations due to respiratory problems and died at the age of four months from progressive respiratory failure. He was diagnosed as having CD based on a novel frameshift mutation (p.Gln458ArgfsX12) in the SOX9 gene, the mutation which has not yet been reported in Korea.

Displasia esquelética campomélica: reporte de caso / Campomelic dysplasia: case report

La displasia campomélica es una osteocondrodisplasia poco frecuente, incluida dentro del grupo de las osteocondrodisplasias letales. Su origen genético son mutaciones en el gen SOX9 que se heredan de forma autosómica dominante. Se caracteriza clínicamente por la forma arqueada de las extremidades, malformaciones de la caja torácica, alteraciones cartilaginosas en el árbol traqueobronquial, alteraciones en la diferenciación genital y otras anomalías menores. Los pacientes con este diagnóstico no tienen un buen pronóstico, a pesar de instaurarse un manejo adecuado. Usualmente, la muerte se da en el período neonatal por insuficiencia respiratoria, debido a las malformaciones torácicas, aunque se describen casos con buen pronóstico. El diagnóstico temprano in utero, a través de la ecografía prenatal y la confirmación diagnóstica con radiografía convencional, son indispensables para un adecuado abordaje interdisciplinario del paciente. Se presenta el caso de un recién nacido masculino con displasia campomélica y su abordaje diagnóstico desde la radiología.

Campomelicdysplasia is a rare osteochondrodysplasia, which is included in the lethal osteochondrodysplasias group. Mutations in SOX9 gene are responsible for this disorder and its inheritance mechanism is autosomal dominant. Campomelicdysplasia is characterized by congenital bowing and angulations of long bones, tracheobronchial tree abnormalities, ambiguous genitalia, dislocated hips and other minor abnormalities. Prognosis is poor in spite of suitable management. Death is usually produced by respiratoryfailure due to thoracic malformations. The early in utero diagnosis through prenatal ultrasonography and its confirmation by conventional X–ray are both essential for an interdisciplinary management. We present a case of a male newborn with campomelicdysplasia and its radiological diagnostic approach.