Achondroplastic Dwarf Research Articles

Emergency cesarean section for obstructed labor with intrauterine fetal death in an achondroplastic dwarf: a case report

Emergency cesarean section for obstructed labor with intrauterine fetal death in an achondroplastic dwarf: a case report

Anesthetic Management of Achondroplastic Dwarf with Bronchial Asthma and Hypothyroidism Posted for Abdominal Hysterectomy

Introduction: Achondroplasia is most common cause of dwarfism caused by FGFR-3 gene mutation. It possess anesthetic challenges due to multiorgan system involvement, spine abnormality, difficulty in mask ventilation and endotracheal intubation. Case Report: A 38yr old, female, case of achondroplastic dwarfism with history of bronchial asthma and hypothyroidism was posted for abdominal hysterectomy. She weighed 30 kgs and 43 cm in height. Spine examination showed thoracolumbar kyphoscoliosis. Airway assessment revealed large tongue, receding mandible, Mallampatti class IV. Pulmonary function test suggested mild restrictive disease. Difficult intubation trolley was kept ready. Routine monitoring, radial artery cannulation done for invasive blood pressure monitoring. Patient was given general anesthesia. On laryngoscopy, CL grade III view was obtained, with the aid of bougie endotracheal tube was placed. Delayed recovery time from general anesthesia was encountered, neuromuscular monitoring was doneandreversed and extubated uneventfully. Conclusion: we present a successful anesthetic management of a dwarf patient with bronchial asthma and hypothyroidism who underwent hysterectomy. We emphasize the risk of neurological injury while extending the neck during laryngoscopy for tracheal intubation due to anatomical abnormalities in these patients. A detailed pre anesthetic evaluation evaluation and planning is utmost important and the anesthetic technique has to be individualized based on the patients anatomical characterstics and associated co-morbidities. Keywords: Dwarf, Asthma, Hypothyroidism. Key Messages: A 38 yrs old female patient with achondroplastic dwarfism (43cm tall) with associated comorbidities like bronchial asthma and hypothyroidism, thoracolumbar kyphoscoliosis and mild restrictive lung disease posted for abdominal hysterectomy possesses various anesthetic challenges. Since multiple systems are involved preanesthetic evaluation, preoperative optimization of the patient and planning of anesthesia is important. As the spread of drug in regional anesthesia is unpredictable, we planned general anesthesia. A successful management of major abdominal surgery in such patients, with anesthetic challenges and implications in these patients are reviewed in this case report.

Anesthetic management of an achondroplastic dwarf with difficult airway and kyphoscoliosis for total abdominal hysterectomy

Achondroplasia is a common form of dwarfism and possesses multiple anesthetic challenges including securing of intravenous line, monitoring and calculating drug dosage, spine abnormality, difficulty in mask ventilation and endotracheal intubation, obesity, cardiopulmonary and neurological system abnormality. There is multiple systems involvement, therefore thorough preanesthetic check ups, investigations and planning for anesthesia is important. Here we came across 36 years old female patient, achondroplasic dwarf (height- 100cm) with thoracolumbar kyphoscoliosis, fused cervical spine, short neck and restricted neck movement with mild pulmonary restrictive disease for total abdominal hysterectomy. Patient also had complained of generalized weakness and fatigue. She had a limited neck extension and short neck possesses anticipated difficult intubation, therefore we planned awake fiberoptic intubation with smaller size endotracheal tube for airway management and general anesthesia in a patient with difficult airway and spine for total abdominal hysterectomy. As the spread of the drug in regional anesthesia is unpredicted, we planned general anesthesia with awake fiberoptic intubation to avoid the risk of neurological injury while extending the neck during laryngoscopy for tracheal intubation due to restricted neck movement.

Bilateral Loss of Vision after Spinal Anaesthesia on a Dwarf Patient

Achondroplasia is the most common form of dwarfism. Achondroplasia poses multiple anaesthetic challenges ranging from securing intravenous line, monitoring and drug dose calculations and airway management among others. Spinal anaesthesia is a very common method of anaesthesia in Botswana. The only type of anaesthetic drug that is in use for spinal anaesthesia in Botswana is hyper baric bupivacaine 0.5%. We report a case of a 33-year-old achondroplastic dwarf patient who developed bilateral visual loss for three days after he had received spinal anaesthesia for appendectomy. Postoperatively the patient was found to have increased intracranial pressure on magnetic resonance imaging scan. Subsequently decompressive ventriculo-peritoneal shunt operation was done and he gradually regained his vision. Meticulous and detailed pre anaesthetic assessment, well planned mode of anaesthesia and post-operative care of dwarf patients is essential to minimize complications and its severity. Post-operative signs and symptoms that may indicate any neurological effect of high intracranial pressure on dwarf patients have to be promptly identified and treated urgently to reduce further damage.

Evidence of an ancient (2000 years ago) goiter attributed to iodine deficiency in North America

The Adena pipe figurine was found in the 2000 year-old Adena burial mound in Ross County, Ohio, USA by William C. Mills in 1901. The pipe reportedly represents an achondroplastic dwarf male Native American. However, the clinical aspect (swelling of the neck), the environmental/cultural characteristics in this area (iodine-poor soils, absence of seafood and milk consumption, tobacco smoking), and the marked prevalence of goiter among Native American populations favor the diagnosis of a goiter associated to iodine deficiency. Similar indigenous art representations found in South America and Mesoamerica strengthen this hypothesis. To our knowledge the Adena pipe is the first example of goiter depicted in Native North American art and one of the oldest from the continent.

Anesthetic Challenges and Management of a Gravid Achondroplastic Dwarf

Achondroplasia, the most common form of human chondrodysplasias, is a rare disorder of impaired endochondral bone ossification, observed in 1/20,000 live births, as a result of over activation of fibroblast growth factor receptor 3 (FGFR3), a tyrosine kinase receptor that restrains over-proliferation of chondrocytes. The ensued mutation in the FGFR3 and its signaling results in various skeletal anomalies. The cause of skeletal dysplasia is frequently a de-novo mutation; however, the mode of inheritance is autosomal dominant if a parent carries a mutated FGFR3 gene. The homozygous form is fatal and has characteristics comparable to thanatropic dwarfs. Supervision of pregnancy in achondroplastic patients is a demanding task for obstetricians owing to cephalo-pelvic abnormalities and spinal curvature disorders. Furthermore, the airway anomalies create an impediment in the anesthetic management of such patients, including laryngomalacia, sternal protuberance, pulmonary malformations, cervical instability, inflexible temporomandibular joint and obstructive sleep apnea; therefore stringent preoperative assessment is obligatory. We reported an anecdotal case of a 28-year-old achondroplastic gravid woman who was referred to us from a tertiary care unit at 33 weeks of gestation. Frequent follow-up appointments with obstetrician, cardiologist, and anesthesiologist were performed due to the escalated risk of various complications. A comprehensive prenatal counseling, extensive assessments of potential risks were conducted by a multidisciplinary team to design a multiparametric management plan. The patient underwent general anesthesia following the failure of spinal anesthesia induction for an emergency caesarean section. We elucidate the risk-benefit analysis associated with the administration of regional and general anesthesia in achondroplastic parturients. The case offers an insight into devising a systemic management plan for such patients undergoing anesthesia induction. The dilemmas in anesthetic management are also emphasized.

78. Coronary bypass using bilateral internal mammary arteries in an achondroplast

Coronary bypass grafting for ischemic heart disease in achondroplastic dwarfs is very rare. Shortage of veins and sometimes, inadequate vein quality can cause difficulties during surgery. Only two achondroplastic cases were reported in literature that underwent coronary bypass surgery, in which the left internal mammary artery and vein grafts were used. To the best of our knowledge using bilateral internal mammary arteries in such patients was not reported. We report here a 55 years old male achondroplastic dwarf who had triple vessels coronary disease that underwent successful coronary bypass surgery using bilateral mammary arteries. Anatomic and surgical challenges in achondroplasia are highlighted

Atlantoaxial Subluxation due to an Os Odontoideum in an Achondroplastic Adult: Report of a Case and Review of the Literature.

The authors report the first example of an adult achondroplastic dwarf with progressive quadriparesis secondary to atlantoaxial subluxation as a consequence of an os odontoideum. Actually, craniocervical region is a frequent site of compression and myelopathy in achondroplasia particularly in children as a result of small foramen magnum and hypertrophied opisthion. Moreover, very rarely in achondroplastic patients, coexistence of atlantoaxial instability as the sequel of os odontoideum can result in further compression of the already compromised cervicomedullary neural tissues, the scenario that has been reported only in five achondroplastic children. Herein, a 39-year-old achondroplastic male suffering such an extremely rare combination is presented. With C1-C2 screw rod instrumentation, atlas arch laminectomy, limited suboccipital craniectomy, and release of dural fibrous bands, reduction, decompression, and stabilization could be achieved properly resulting in steady but progressive recovery.

Perioperative management of alcohol withdrawal in an achondroplastic dwarf with an unstable cervical spine: a difficult management dilemma.

Patients presenting with alcohol withdrawal syndrome have an increased risk of perioperative events related to hemodynamic and respiratory instability. We present the case of a 49-year-old achondroplastic dwarf in alcohol withdrawal with cervical spinal cord injury and aortic dissection requiring emergency surgery. Due to conflicting perioperative management goals, a decision was made to delay surgery until the patient became clinically stable. Additional options might have been explored and resulted in better outcome.

Editorial comments on perioperative management of alcohol withdrawal in achondroplastic dwarf with an unstable cervical spine: a difficult management dilemma.

A & A Case Reports: November 15, 2013 - Volume 1 - Issue 4 - p 58 doi: 10.1213/XAA.0000000000000009

All the small things

Mendel’s Dwarf follows the fictional story of Benedict Lambert: a cynical, smart, and brilliantly funny genetic researcher, and an achondroplastic dwarf. Benedict leads us through his world: “a world of obstacles provided by the things of everyday life—chairs; laboratory benches; public toilets; buses; and, of course, people.” We look on, intrigued and compassionate, but never pitying, at this dwarf with his sharp mind and dark wit. Benedict was born to “normal” parents, grew up in a normal house, and attended a normal school. His upbringing, however, was far from normal. A mixture of schoolyard bullying, derogatory presumptions about his intelligence, and a perpetual lack of eye contact plagued Benedict’s childhood and adolescence. Even his own father was culpable here, as Ben recalls, “Never throughout my …

Pneumomediastinum, Subcutaneous Emphysema, and Tracheal Tear in the Early Postoperative Period of Spinal Surgery in a Paraplegic Achondroplastic Dwarf

Achondroplasia was first described in 1878 and is the most common form of human skeletal dysplasia. Spinal manifestations include thoracolumbar kyphosis, foramen magnum, and spinal stenosis. Progressive kyphosis can result in spinal cord compression and paraplegia due to the reduced size of spinal canal. The deficits are typically progressive, presenting as an insidious onset of paresthesia, followed by the inability to walk and then by urinary incontinence. Paraplegia can be the result of direct pressure on the cord by bone or the injury to the anterior spinal vessels by a protruding bone. Surgical treatment consists of posterior instrumentation, fusion with total wide laminectomy at stenosis levels, and anterior interbody support. Pedicle screws are preferred for spinal instrumentation because wires and hooks may induce spinal cord injury due to the narrow spinal canal. Pedicle lengths are significantly shorter, and 20–25 mm long screws are appropriate for lower thoracic and lumbar pedicles in adult achondroplastic There is no information about the appropriate length of screws for the upper thoracic pedicles. Tracheal injury due to inappropriate pedicle screw length is a rare complication. We report an extremely rare case of tracheal tear due to posterior instrumentation and its management in the early postoperative period.

The Mütter Museum, College of Physicians of Philadelphia, 19 South 22nd Street, Philadelphia, PA 19303, USA.

The Mütter Museum, College of Physicians of Philadelphia, 19 South 22nd Street, Philadelphia, PA 19303, USA.

Failed rapid sequence induction in an achondroplastic dwarf

Achondroplasia, a common cause of short limbed type of dwarfism is due to quantitative decrease in rate of endochondral ossification. This abnormal bone growth leads to disproportionate body and head structure, thus placing them under high risk for anaesthetic management. There is paucity in literatures, regarding appropriate drug dosage selection in these patients. Use of drugs as per standard dosage recommendations based on body weight or body surface area, may not be adequate in these patients owing to discrepancies in overall body weight and lean body weight, especially during rapid sequence induction. Here, we report a case of failed rapid sequence induction due to abnormal response to administered drugs in an adult achondroplastic dwarf. Standard doses of thiopentone and rocuronium had to be repeated thrice to achieve adequate conditions for intubation.

Case study: Anaesthetic management of an achondroplastic dwarf undergoing radical nephrectomy

AbstractA three feet two inch (96 cm) tall achondroplastic patient with urothelial cell carcinoma involving renal pelvis was scheduled for a radical nephrectomy. Radial artery cannulation and central venous access were secured in the pre-induction period. After induction, the airway was secured using a flexible fibreoptic scope. General anaesthesia was maintained with oxygen-nitrous-oxide and continuous propofol infusion. The total duration of anaesthesia was three hours and 50 minutes. To the best of the authors' knowledge, this is the shortest adult achondroplastic patient ever reported to undergo such major abdominal surgery under general anaesthesia. The anaesthetic implications in patients with achondroplasia are reviewed in this case report.

Estimation of the dose of hyperbaric bupivacaine for spinal anaesthesia for emergency caesarean section in an achondroplastic dwarf

Estimation of the dose of hyperbaric bupivacaine for spinal anaesthesia for emergency caesarean section in an achondroplastic dwarf

Anatomic Considerations for Radical Retropubic Prostatectomy in an Achondroplastic Dwarf

This is the first report of a radical retropubic prostatectomy (RRP) in an achondroplastic dwarf. We highlight the pelvic anatomy, precluding laparoscopic or robotic prostatectomy, and making open surgery extremely difficult. We review relevant literature regarding general, urological, and orthopedic abnormalities of achondroplasia (ACH) and present a clinical case. No reports of RRP in achondroplastic dwarfs exist, with only one case of an abandoned RRP due to similar pelvic anatomy in a patient with osteogenesis imperfecta. Significant lumbar lordosis found in ACH results in a short anteroposterior dimension, severely limiting access to the prostate. We present a case of a 62-year-old achondroplastic dwarf who had Gleason 3+4 disease on transrectal ultrasound-guided biopsy in four from 12 cores. Surgery was difficult due to narrow anteroposterior pelvic dimension, but achievable. Histological analysis revealed multifocal prostate cancer, with negative surgical margins and no extraprostatic extension. RRP in ACH patients, although possible, should be approached with caution due to the abnormal pelvic dimensions, and discussions regarding potential abandonment of surgery should be included during informed consent. This case highlights the preoperative use of computed tomography to assist in the surgical planning for patients with difficult pelvic anatomy.

Anesthesia for Bariatric Surgery in an Achondroplastic Dwarf with Morbid Obesity

Achondroplasia is the most common form among the different types of osteochondrodysplasia that cause dwarfism. Dwarves develop obesity quite frequently and surgical treatment has shown greater efficacy, both for effective weight loss and long term maintenance. The objective of this report was to present the case of bariatric surgery with Y-en-Roux gastric bypass in an achondroplastic dwarf with morbid obesity. The different difficulties in the anesthetic management of this patient and the way they were dealt with were discussed in order to decrease intraoperative morbidity and mortality. This is a 29 years old female dwarf with achondroplasia and morbid obesity since childhood. She was 123 cm tall and weighed 144 kg at the time of admission to the Bariatric Surgery service. With a body mass index (BMI) of 95.18 kg.m2, she had several associated diseases especially of the respiratory system and osteoarticular system. After a long follow-up with diet, exercises, and psychological support, her clinical condition improved and she was referred for surgery: Y-en-Roux gastroplasty using the technique of Capella-Fobi. Intubation of the awake patient under direct laryngoscopy was difficult and a bronchofibroscope had to be used. Surgery was uneventful and the patient was maintained under total intravenous anesthesia with continuous infusion of remifentanil and propofol. She was extubated at the end of the surgery still in the operating room. The simultaneous comorbidities of achondroplasia and morbid obesity can hinder the anesthetic management, especially regarding the airways. A thorough pre-anesthetic evaluation is necessary to anticipate the conducts and minimize risks, therefore optimizing the evolution of anesthesia.

Cauda equina compression in an achondroplastic dwarf. Is complex anterior and posterior surgical intervention necessary?

We report the case of an achondroplastic dwarf who presented with partial paraplegia due to cauda equina compression. The patient had marked thoracolumbar kyphosis and spinal stenosis at L2–L3. Although only posterior decompression is recommended in the literature for the treatment of achondroplastic patients presenting with neurological problems, a staged anterior and posterior decompression and stabilization was considered necessary for the treatment of this particular patient due to the presence of kyphosis. Satisfactory clinical results were achieved and sustained for six years following this complex operation.

Sinus venosus atrial septal defect closure in an achondroplastic dwarf: anesthetic and cardiopulmonary bypass management issues

Sinus venosus atrial septal defect closure in an achondroplastic dwarf: anesthetic and cardiopulmonary bypass management issues