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Tetra‐amelia is a rare birth defect characterised by the complete absence of all four limbs. Affected infants are often stillborn or die shortly after birth. There is therefore limited experience in the management of this condition in surviving adults, and published guidelines on peri‐operative and anaesthetic management do not exist. We present a 34‐year‐old woman with tetra‐amelia who underwent an elective distal pancreatectomy and splenectomy for a mucinous tumour of the body and tail of the pancreas. The anaesthetic challenges highlighted by this case include difficult intravenous access, unachievable blood pressure monitoring, management of fluid balance status peri‐operatively, effective drug dose titration and temperature management. In the absence of intra‐operative blood pressure monitoring, other modalities were used to monitor haemodynamic and volume status peri‐operatively. As drug dosing guidelines do not exist for this condition and drug pharmacodynamics may be unpredictable, we recommend careful dose titration and bespoke multimodal analgesia, which is best achieved in a high dependency setting.

Tetra-amelia is a rare congenital disorder characterized by the absence of limbs. We describe the anesthetic management of a 29-year-old woman with tetra-amelia who underwent general anesthesia for tympanomastoidectomy with meatoplasty for an extensive right ear cholesteatoma. Anesthetic challenges related to tetra-amelia include difficult intravenous access, lack of sites for blood pressure monitoring, and possible difficult airway management due to craniofacial anomalies. Our case report focuses on the complex establishment of iliac artery access for invasive blood pressure monitoring by initially cannulating the carotid artery.

Tetra-amelia syndrome is a congenital disorder associated with near or complete absence of all 4 limbs. Noninvasive hemodynamic monitoring may be difficult or impossible in such patients. We describe the use of a finger cuff blood pressure system for continuous noninvasive blood pressure monitoring in an infant with near-complete tetra-amelia undergoing laparoscopic gastrostomy tube placement. This case suggests the potential use of such a blood pressure monitoring system for other patients with comparable deformities.

Ya z›fl ma Ad re si/Ad dress for Cor res pon den ce Dr. Zelal Kahramaner, Adiyaman Universitesi Tip Fakultesi, Kadin Dogum ve Cocuk Hastanesi, Yenidogan Klinigi, Adiyaman, Turkiye Gsm: +90 506 947 74 58 E-posta: zelaldr@hotmail.com Ge lis ta ri hi/Re cei ved: 07.10.2013 Ka bul ta ri hi/ Ac cep ted: 27.10.2013 1Adiyaman Universitesi Tip Fakultesi, Kadin Dogum ve Cocuk Hastanesi, Yenidogan Klinigi, Adiyaman, Turkiye 2Dokuz Eylul Universitesi Tip Fakultesi, Tibbi Genetik Anabilim Dali, Izmir, Turkiye 3Adiyaman Universitesi Tip Fakultesi, Kadin Dogum ve Cocuk Hastanesi, Radyoloji Klinigi, Adiyaman Zelal Kahramaner1, Aydin Erdemir1, Ozlem Giray Bozkaya2, Mehmet Tekin1, Sumeyye Ercan1, Bilal Arik3

Background and Purpose: Tetra-amelia is a syndrome characterized by absence (complete) for all four members and anomalies. The objective of this report was to describe the case of a patient with tetra-amelia underwent arthrodesis of spine to correct severe scoliosis. Case report: Male patient, 12 years old, 41.1 kg, carrying tetra-amelia, underwent surgery to correct spine with severe scoliosis spine arthrodesis between T4 and L1. Discussion: The management of the patient with tetra-amelia becomes a challenge for the implications of the airway, intraoperative monitoring, fluid replacement and response to vasoactive drugs. This syndrome is uncommon and rare reports in the literature also.

Tetra-ameli, tüm ekstremitelerin yokluğu ile karakterize nadir bir genetik bozukluktur. Hastalar akciğer enfeksiyonu veya ek anomalileri nedeni ile sık sık hastaneye yatmak zorunda kalırlar. Bu hastalarda kafatası ve boyundan periferik intravenöz girişimle veya internal juguler venden santral venöz kateter yerleştirilmesi (SVKY) ile damaryolu bulunabilir. SVKY sonrası damar ve sinir yaralanmaları, pnömotoraks, hemotoraks, kardiyak tamponad, pulmoner emboli, aritmi, sepsis ve giriş yerinde enfeksiyon gibi komplikasyonlar bildirilmiştir. Şilotoraks nadir bir komplikasyondur. SVKY gereken olgularda uygun kalınlık ve uzunlukta kateterin seçilmesi ve sağ internal juguler venin tercih edilmesi şilotoraksı azaltacaktır. Bu yazıda, tetra-amelili hastada damar yolu uygulamaları ve SVKY ile ilişkili şilotoraksın tanı ve tedavisinin tartışılması amaçlanmaktadır., Tetra-amelia is a very rare genetic disorder, characterized by the complete absence of all extremities. Patients often have to be hospitalized because of pulmonary infection and associated abnormalities. In this patient group, venous access is possible by the insertion of either a peripheral intracath at the scalp/neck or a central venous catheter (CVC) at the internal jugular vein. Following central venous catheterization, many complications such as vessel and nerve injury, pneumothorax, hemothorax, cardiac tamponade, pulmonary embolism, arrhythmia, sepsis, and infection at the insertion site have been reported in the English literature. Chylothorax, a rare complication following central venous catheterization, can be decreased by preferring insertion of the CVC to the right internal jugular vein and using a flexible CVC of an appropriate length and gauge. Herein, insertion of CVC in a case with tetra-amelia and diagnosis and treatment of CVC-related chylothorax were summarized

A 27 week pregnant woman, which we demostrated tetra amelia (congenital agenezi of extremities) by clinical ultrasonography, is evaluated. The case is an antenatally demonstrated tetra amelia, additionally; bilateral pulmonary hypoplasia and micrognatia which were found during post-mortem evaluation. This case is an exteremely uncommon form of congenital extremity anomalies. Ultrasound imaging is the best procedure for this kind of extremity anomalies.

Variable degrees of limb reduction defects involving the loss of distal structures can be described using the term peromelia. They are usually symmetrical and involve amputation-like phenotypes at the level of the hands/feet or the forearm/calf with only stumps remaining. The complete absence of limbs is referred to as tetra-amelia. The latter may be associated with various other features, including cleft lip/palate, hypoplasia of the pelvis, pulmonary hypoplasia, and hydrocephalus.

Although limb anomalies are a common clinical problem, they are rarely studied. The spectrum of limb anomalies ranges from very mild disorders such as syndactyly to very severe forms such as absent limb (amelia). Tetra-amelia is a rare anomaly with complete or partial deficiency of all four limbs. It may be isolated or associated with other anomalies. Roberts-SC phocomelia syndrome comprises four limb deficiencies, lung hypoplasia, facial clefts and other anomalies. We describe two cases that presented to us.

The case presented is that of a parturient with tetra-amelia, the congenital absence or near absence of all limbs. The difficulties encountered with monitoring and venous access due to absence of extremities illustrate the necessity for a detailed management plan with emphasis on early intervention. The reasons for the high incidence of operative delivery are outlined.

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome.

We report on a family with two sons affected with tetra-amelia, cleft lip-palate, bilateral agenesis of lungs, and heart defects. These two cases support the previous suggestions that this complex entity may indeed represent a new syndrome. However, the mode of inheritance is still not clarified.

We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, "X-linked amelia" is proposed.

An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in families with Roberts syndrome are discussed.

A woman who had previously given birth to a child with tetra-amelia was sonographically diagnosed to have again conceived a fetus with the same anomaly. Although recurrent tetra-amelia is extremely rare, ultrasonographic imaging proved to be very useful in detecting this limb reduction defect in early pregnancy.