There is much confusion in orthopedic literature regarding the nature and significance of the so-called acetabular labrum in congenital dislocation of the hip. This experiment describes an animal model in which the relationship between eversion of the acetabular labrum and acetabular dysplasia with degeneration of the articular cartilage was studied. The acetabulum gradually become shallower and more vertically oriented and the femoral head gradually subluxed, but never dislocated. The radiographic appearance of the hip dysplasia was very similar to that seen in human beings. The animals remained asymptomatic without clinically visible signs of hip abnormality throughout the study. It was clearly demonstrated that there was substantial amounts of degenerative change in the articular cartilages of the subluxed hip with no evidence of degenerative change radiologically. It could be concluded that excision of the acetabular labrum should be avoided during open reduction of congenital dislocation of the hip.
Acetabulum/pathology* ; Animal ; Bone Diseases, Developmental/etiology* ; Dogs ; Hip Dislocation/complications* ; Osteoarthritis/etiology*

A 7-yr-old girl presented with progressive shortening of the right upper arm and limitation of shoulder motion. Pseudohypoparathyroidism associated with Albright's hereditary osteodystrophy was diagnosed by biochemical, hormonal and radiographic studies. Her condition was complicated by severe humerus varus on the right side. Proximal humeral valgization osteotomy and concomitant humeral lengthening resulted in an improvement of the shoulder joint motion and activity in daily life.
Bone Diseases/*complications/*diagnosis ; Bone Diseases, Developmental/diagnosis ; Bone Lengthening ; Child ; Female ; Foot/radiography ; Hand/radiography ; Humans ; Humerus/*radiography ; Joint Deformities, Acquired/diagnosis ; Osteotomy ; Pseudohypoparathyroidism/*complications ; Time Factors

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans ; Abnormalities, Multiple ; Retrospective Studies ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/complications* ; Tooth Abnormalities/complications* ; Facies ; Muscular Dystrophy, Duchenne/complications* ; Muscular Atrophy, Spinal/complications* ; Carrier Proteins ; Nuclear Proteins

OBJECTIVESTo investigate clinical appearance and radiological characteristics of high grade developmental spondylolisthesis and their significance.

METHODSIn a retrospective study, a group of 6 female patients, who were diagnosed as high grade developmental spondylolisthesis and treated in Peking University third hospital from March 2007 to December 2008 were included. Clinical and radiological characteristics of the 6 patients were investigated and the following parameters were measured on standing lateral X-ray: PI (pelvic incidence), SK (sacral kyphosis) and LL (Lumbar lordosis). A series of 44 patients who came to out-patient department due to LBP and had no positive findings on lateral lumbar X-ray were selected as the control group. The four parameters were compared between study group and control group. Clinical meanings of significant difference were discussed.

RESULTSClinical findings of high grade developmental spondylolisthesis included bending of knees, deformity of trunk and sciatica. Radiological appearances were characterized with kyphosis of lumbo-sacral joint, retroverted pelvis and domed sacrum. Spondylolisthesis patients has an average PI of (52 +/- 7) degrees which was significant higher than the control group [(43 +/- 8) degrees ] (P < 0.01). LL of study group [(51 +/- 10) degrees ] was higher than that of the control group [(18 +/- 9) degrees ] (P < 0.01) and SK of the study group [(12 +/- 11) degrees ] were lower than that of the control group [(21 +/- 10) degrees ] (P < 0.05).

CONCLUSIONSCharacteristics of clinical findings of spondylolisthesis patients have obvious cosmetic appearance, significant pain and lower neurological deficits. Radiological characteristics display deformity of lumbo-sacral joint. PI, LL and SK are significant parameters for high grade spondylolisthesis.

Bone Diseases, Developmental ; complications ; diagnostic imaging ; Child ; Female ; Humans ; Lumbar Vertebrae ; diagnostic imaging ; Radiography ; Retrospective Studies ; Spondylolisthesis ; diagnostic imaging ; etiology

OBJECTIVETo retrospectively compare the therapeutic effects of simple Pemberton's ilium osteotomy and combined unter-trochanter derotation-varisation osteotomy for developmental dysplasia of the hip (DDH).

METHODSClinical data of 141 DDH patients who received either simple Pemberton's ilium osteotomy (n=57; 12 male and 45 female; age range 3-8 years) or combined unter-trochanter derotation-varisation osteotomy (n=84; 15 male and 69 female; age range 4-9 years) from January 2004 to January 2009 were collected. Postoperative complications, Severin's radiological outcomes and therapeutic outcomes as evaluated by Mcay criteria were compared between the two groups 2 years after operation.

RESULTSThe patients in simple Pemberton group were followed-up for 30-52 months (mean 38 months) and the patients in the combination group were followed-up for 32-51 months (mean 37 months). There were 7 cases of dislocation, 4 cases of avescular necrosis of femoral head and 5 cases of joint stiffness in simple Pemberton group vs 0 case of dislocation, contraction of the limb and ANFH,2 cases of joint stiffness in the combination group. Two years after surgery, the result as evaluated by McKay criteria was excellent in 27 cases, good in 18 cases and fair in 12 cases in simple Pemberton group vs. 52, 25 and 7 cases in the combination group. The overall clinical outcome in the combination group was better than that in simple Pemberton group. Severin X-ray evaluation showed excellent in 27 cases, good in 15 cases and fair in 15 cases in simple Pemberton group vs. 53, 22 and 9 cases in the combination group,indicating that the overall result in the combination group was better than that in simple Pemberton group.

CONCLUSIONThe overall clinical outcome of the combination group is better than that of simple Pemberton group in the treatment of pediatric DDH, especially in reducing postoperative complications and functional recovery. The patients in the combination group reported a higher postoperative satisfaction as compared with those in simple Pemberton group.

Bone Diseases, Developmental ; etiology ; surgery ; Child ; Child, Preschool ; Female ; Femur ; surgery ; Hip Dislocation, Congenital ; complications ; surgery ; Humans ; Ilium ; surgery ; Male ; Osteotomy ; methods

Adult ; Arthroplasty, Replacement, Hip ; methods ; Bone Diseases, Developmental ; complications ; pathology ; physiopathology ; surgery ; Female ; Follow-Up Studies ; Hip Joint ; pathology ; surgery ; Humans ; Male ; Middle Aged ; Reconstructive Surgical Procedures ; methods

Scurvy is very rare disease in industrialized societies. Nevertheless, it still exists in higher risk groups including economically disadvantaged populations with poor nutrition, such as the elderly and chronic alcoholics. The incidence of scurvy in the pediatric population is very low. This study reports a case of scurvy in a 5-year-old girl with cerebral palsy and developmental delay based on MRI findings.
Ascorbic Acid/blood/therapeutic use ; Bone Diseases, Metabolic/etiology ; Cerebral Palsy/complications ; Child, Preschool ; Cholecalciferol/blood ; Developmental Disabilities/complications ; Drainage ; Female ; Femur/pathology/radionuclide imaging/surgery ; Fever/etiology ; Follow-Up Studies ; Hematoma/diagnosis/etiology/surgery ; Humans ; Knee/radiography ; Magnetic Resonance Imaging/*methods ; Muscle Weakness/etiology ; Rare Diseases ; Scurvy/complications/*diagnosis/drug therapy ; Thigh/pathology ; Vitamins/therapeutic use