Achondroplasia: anaesthetic challenges for caesarean section

Pregnancy in women with achondroplasia presents major challenges for anaesthetists and obstetricians. We report the case of a woman with achondroplasia who underwent general anaesthesia for an elective caesarean section. She was 99 cm in height and her condition was further complicated by severe kyphoscoliosis and previous back surgery. She was reviewed in the first trimester at the anaesthetic high-risk clinic. A multidisciplinary team was convened to plan her peripartum care. Because of increasing dyspnoea caesarean section was performed at 32 weeks of gestation. She received a general anaesthetic using a modified rapid-sequence technique with remifentanil and rocuronium. The intraoperative period was complicated by desaturation and high airway pressures. The woman’s postoperative care was complicated by respiratory compromise requiring high dependency care.     

Thanatophorer Zwergwuchs

Zusammenfassung 1967 wurde von Maroteaux u. Mitarb. der thanatophore Zwergwuchs als eigene Form einer chondrodysplastischen Störung beschrieben. Seither wurden 47 Fälle unter dieser Diagnose publiziert. Zahlreiche weitere konnten in der Literatur nachträglich identifiziert werden.Das Krankheitsbild ist leicht zu erkennen. Die Differentialdiagnose zur klassischen angeborenen Achondroplasie (Chondrodystrophie) wird ausführlich beschrieben.

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Thanatophoric dwarfism

Thanatophoric dwarfism as a distinct type of chondrodystrophy has been described in 1967 by Maroteaux et al. 47 cases with this diagnosis have since been published. Several additional cases in the literature could also be identified. Diagnosis and differentiation from achondroplasia is not difficult. An additional case is described.

     

发鼻指（趾）综合征（附一家族四例报告）

作者报告了一家族２代４例发鼻指（趾）综合征的临床Ｘ线表现。本综合征的病理基础是干骺软骨形成障碍伴外胚层发育不良。软骨发育障碍主要累及指（趾）骨的骨骺软骨板，导致锥形骨骺的形成及骺线早闭，肢端短粗畸形。结合文献讨论了本病的基本Ｘ线表现与病理基础。指出诊断要点和两髂骨耳状面三角形或月牙形骨质致密硬化可能是Ｘ线诊断的重要线索。     

An unusual cause of back pain in an achondroplastic man

A case is described of a 47-year-old man with achondroplasia who presented with lower back pain radiating to his left loin. An intravenous urogram (IVU) showed hydronephrosis on the left side and a dilated left ureter passing down into the left inguinal region. A CT scan confirmed a left inguinal hernia containing the left ureter causing ureteric obstruction. The hernia was repaired using the Lichtenstein technique with the ureter replaced retroperitoneally. A postoperative IVU showed recovery in renal function but with a persistently dilated left ureter that was not obstructed. A review of the literature regarding inguinal herniation involving the ureter is presented.     

软骨发育不全患儿FGFR3基因突变的检测

为了解软骨发育不全基因突变类型，采用聚合酶链反应－限制性酶切分析的方法，对１２例软骨发育不全患者、２例散发患者的父母和４例健康正常人的成纤维细胞生长因子受体３（ＦＧＦＲ３）基因位点的点突变进行检测。结果显示，１２例患者１１例为ＦＧＦＲ３基因跨膜区１１３８位核苷酸Ｇ→Ａ的转换，１例为Ｇ→Ｃ的颠换，均导致３８０位密码子的错义突变，即由精氨酸替代了甘氨酸。２例散发患者的父母和４例健康正常人未发现突变。结论：软骨发育不全患者出现ＦＧＦＲ３基因跨膜区的点突变，３８０位密码子是软骨发育不全患者突变的热点。     

A quantitative description of self-selected walking in adults with Achondroplasia using the gait profile score

BackgroundAchondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls). Previous work shows gait kinematics of individuals with Achondroplasia differing to controls, but no global quantification of gait has been made in adults with Achondroplasia.AimThe aim of this study was to quantify gait differences between a group of adult males with Achondroplasia and controls during self-selected walking (SSW) using the Gait Profile Score (GPS).DesignWhole body motion analysis of 10 adults with Achondroplasia (22 ± 3 yrs) who had not undergone leg lengthening and 17 adult controls (22 ± 2 yrs) was undertaken using a 14 camera VICON system (100 Hz). For each group, fifteen root mean squared Gait Variable Scores (GVS, units °) were computed from lower limb kinematic data and then summed to calculate GPS (°).ResultsThe group with Achondroplasia had higher GVSs than controls in 10 of the 15 measures (P < 0.05) with the largest differences found in ankle plantar/dorsiflexion (P < 0.001), knee flexion/extension (P < 0.001), and hip internal/external rotation (P < 0.001). The GPS value of the group with Achondroplasia was 64% higher than controls (11.4° (2.0) v 4.1° (1.8), P < 0.001).ConclusionGait is quantitatively different in adults with Achondroplasia compared to controls. The differences in GPS between groups are due to differences in joint kinematics, which are possibly manifested by maintaining toe-clearance during swing. Gait models derived from the anatomy of individuals with Achondroplasia may improve these data.