Prenatal sonographic diagnosis of diastrophic dwarfism

A healthy 27-year-old pregnant woman underwent sonographic examination because her uterine size was large for 20 weeks' menstrual age. Sonograms showed short fetal limbs with hitchhiker thumbs and toes, thoracic scoliosis, clubbed feet, and polyhydramnios. The ossification of all bony structures appeared normal, and there was no evidence of fractures. On the basis of these sonographic findings, we diagnosed skeletal dysplasia and short-limbed dwarfism, most likely diastrophic dwarfism. We counseled the parents, and the pregnancy was continued. At 37 weeks menstrual age, the patient vaginally delivered a male infant that weighed 2,560 g. The infant survived with respiratory support during his first few days of life. Postnatal physical and radiologic examinations confirmed the prenatal diagnosis of diastrophic dwarfism. Sonography is the modality of choice for prenatal detection of diastrophic dwarfism.     

Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.

The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK.     

儿童矮小症45例病因和治疗分析

目的探讨儿童矮小症的病因,为临床诊断治疗提供参考依据。方法对45例儿童矮小症病例,进行回顾性分析。结果 45例矮小症儿童中,生长激素(GH)缺乏性矮小14例,特发性家族性矮小9例,体质性矮小9例,小于胎龄儿7例,染色体异常2例,甲状腺功能减退1例,幼年特发性关节炎1例,营养缺乏2例。重组人生长激素(rh-GH)对生长激素缺乏症(GHD)、特发性矮小和足月小样儿治疗效果满意,身高增长1 cm/月左右,非GH缺乏甲状腺功能低下予以甲状腺素片治疗,身高增长迅速。结论儿童矮小症病因复杂,以GHD最多见,必须全面询问和采集病史,做相关实验室检查,明确病因,以利治疗。     

Treatment of hypophyseal dwarfism with biosynthetic growth hormone

17 prepubertal children (12 male, 5 female) with growth hormone deficiency (GHD) were treated with a total of 12 IU/m2/week biosynthetic human growth hormone for at least three years. Growth hormone was administered daily by the subcutaneous route. Growth velocity (GV) increased from -2.75 SDS +/- 1.06 (3.58 cm +/- 0.87) to +2.91 SDS +/- 1.73 (8.6 +/- 1.3 cm) after one year of treatment. GV decreased subsequently, but remained above the pretherapeutic values. Height for chronological age increased from -2.68 SDS +/- 0.44 (pretreatment value) to -2.22 SDS +/- 0.49 SDS after one year and to -1.67 +/- 0.6 SDS after 3 years of GH therapy. Analysis of the height of each individual patient after each of the three years of treatment shows a positive correlation to the pretreatment height. Our data stress the need for early diagnosis and treatment of GHD patients because GV remains elevated for three years under therapy with 12 IU GH/m2/week in this group of GHD patients. This results in a height gain in the second and third year of treatment after catch up growth in the first year of therapy. Nevertheless, pretreatment height seems to be an important factor influencing the therapeutic results of GH administration in the individual GHD patient, stressing the need for improving the treatment schedule in patients with the most severe growth retardation.     

Total knee arthroplasty in a patient with diastrophic dwarfism

Diastrophic dwarfism is an autosomal recessive disease that predominantly occurs in the Finnish population (1 in 33,000) but has been known to occur worldwide. Affected patients present with multiple cartilaginous anomalies and early degeneration of weight-bearing joints. Once past infancy, life expectancy is favorable and patients may undergo multiple surgical procedures throughout their lifetime to repair .or replace affected joints. The characteristic short trunk of these patients in addition to scoliosis, cervical kyphosis, and involvement of articular cartilages can create unique ventilation and airway challenges for anesthesia providers involved in their care.     

Study on pathogenic genes of dwarfism disease by next-generation sequencing

BACKGROUNDThere are many factors that lead to dwarfism, and the mechanism has not yet been elucidated. Next-generation sequencing may identify candidate-related gene mutations, which may clarify the molecular cause.AIMTo analyze genetic variation by using a constructed panel related to dwarfism by utilizing next-generation sequencing platform sequencing analysis to screen candidate-related gene mutations.METHODSPhysical and laboratory characteristics, including clinical examination, growth hormone drug challenge test, serum insulin-like growth factor-1 (IGF-1), IGF binding protein 3, other related tests, imaging examination, and chromosome karyotyping, were analyzed. Next-generation sequencing was performed to analyze pathogenicity variability.RESULTSIn the 39 dwarfism patients, 10 had pathogenicity variability. Gene variation was found in the OBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes. Of the 10 patients with pathogenicity variability, the related physical characteristics included double breast development and growth hormone deficiency, enuresis and indirect inguinal hernia on the left, two finger distance of 70.2 cm, head circumference of 49.2 cm, ischium/lower body length of 1.8 cm, weak limb muscles, and partial growth hormone deficiency. After 6 mo of growth hormone therapy, the concentrations of IGF-1 and IGF binding protein 3 increased from 215.2 ± 170.3 to 285.0 ± 166.0 and 3.9 ± 1.4 to 4.2 ± 1.1, respectively.CONCLUSIONOBSL1, SLC26A2, PTPN11, COL27AI, HDAC6, CUL7, FGFR3, DYNC2H1, GH1, and ATP7B genes may be related to the incidence of dwarfism, and more research needs to be performed to elucidate the mechanism.