This study sought to evaluate the contribution of two-dimensional ultrasound (2D-US) and three-dimensional skeletal imaging ultrasound (3D-SUIS) in the prenatal diagnosis of sirenomelia. Between September 2010 and April 2014, a prospective study was conducted in a single referral center using 3D-SUIS performed after 2D-US in 10 cases of sirenomelia. Diagnostic accuracy and detailed findings were compared with postnatal three-dimensional helical computed tomography (3D-HCT), radiological findings and autopsy. Pregnancy was terminated in all 10 sirenomelia cases, including 9 singletons and 1 conjoined twin pregnancy, for a total of 5 males and 5 females. These cases of sirenomelia were determined by autopsy and/or chromosomal examination. Initial 2D-US showed that there were 10 cases of oligohydramnios, bilateral renal agenesis, bladder agenesis, single umbilical artery, fusion of the lower limbs and spinal abnormalities; 8 cases of dipus or monopus; 2 cases of apus; and 8 cases of cardiac abnormalities. Subsequent 3D-SUIS showed that there were 9 cases of scoliosis, 10 cases of sacrococcygeal vertebra dysplasia, 3 cases of hemivertebra, 1 case of vertebral fusion, 3 cases of spina bifida, and 5 cases of rib abnormalities. 3D-SUIS identified significantly more skeletal abnormalities than did 2D-US, and its accuracy was 79.5% (70/88) compared with 3D-HCT and radiography. 3D-SUIS seems to be a useful complementary method to 2D-US and may improve the accuracy of identifying prenatal skeletal abnormalities related to sirenomelia.
Adult ; Ectromelia ; diagnostic imaging ; Female ; Humans ; Pregnancy ; Ultrasonography, Prenatal ; Young Adult

Child ; Ectromelia ; diagnostic imaging ; pathology ; physiopathology ; therapy ; Humans ; Male ; Tomography, X-Ray Computed

We experienced an unusual complication of acute radial nerve palsy presenting as wrist drop after application of automated cycled blood pressure monitoring for 3 hours. A 19-year-old ASA physical status 1 female was scheduled to undergo nail removal, had been operated internal transport over the nail lengthening for fibular hemimelia. Blood pressure cuff was affixed to her right upper arm and worked automatically every 5 minute during surgery. One day after operation she complained of pain over the lower lateral aspect of the right upper arm and examination revealed zero power of the wrist and finger extensor muscles. Electromyelography (EMG) and nerve conduction velocity (NCV) revealed right radial neuropathy. She was discharged 20 days after operation with improvement of the right upper arm pain. After three months of physical therapy, the muscle power of wrist extensors reverted to completely normal and the muscle power of the finger extensors improved to fair.
Arm ; Blood Pressure ; Blood Pressure Monitors ; Ectromelia ; Female ; Fingers ; Humans ; Muscles ; Nails ; Neural Conduction ; Paralysis ; Radial Nerve ; Radial Neuropathy ; Wrist ; Young Adult

PURPOSE: Phocomelia is an extremely rare congenital anomaly of the upper extremity. There have been no clinical reports about phocomlia in Korea except for five birth reports. We present here the clinical features, classifications and surgical treatments of our phocomelia cases. MATERIALS AND METHODS: From January 1993 to August 2007, seven patients were diagnosed as having phocomelia in 9 upper extremities at our clinic. Surgical treatments were performed for five patients on their hand anomalies. We retrospectively reviewed the medical records and radiographs of our cases, and we tried to classify them by the previously suggested systems. We evaluated the functional improvement and measured the VAS scale for parental satisfaction with the operative outcomes. RESULTS: We could not find any problems during the fetal periods or any hereditary features. The bilaterally-affected patients also had deformities of the lower extremity, while the unilaterally-affected patients did not. We couldn't classify our cases according to the Frantz and O'Rahilly system. We found that the classifications suggested by Tytherleigh-Strong and Hooper (2003) and Goldfarb et al. (2005) could be promising alternatives for classification. One upper extremity was classified as type A, one as type B, and 7 as type C by Tytherleigh-Strong and Hooper's system. Using the Goldfarb's system, two upper extremities were classified as proximal radial longitudinal dysplasia, and seven were classified as proximal ulnar longitudinal dysplasia. Three patients who underwent pollicization showed opposition and tip pinch. Two patients who underwent syndactyly division could do lateral pinch. The VAS scale for parental satisfaction with the functional improvement averaged 8.2 postoperatively. CONCLUSION: The bilateral cases had different clinical features from unilateral ones. Phocomelia could not simply be classified by the Frantz and O'Rahilly system, and it may not be a true transverse intercalary deficiency. We could gain functional improvement after operations on the hand anomalies.
Congenital Abnormalities ; Ectromelia ; Hand ; Humans ; Korea ; Lower Extremity ; Medical Records ; Parents ; Parturition ; Retrospective Studies ; Syndactyly ; Upper Extremity

Fibular hemimelia is the most common congenital absence or hypoplasia of long bone. In addition to fibular absence or hypoplasia, this entity also includes various combined abnormalities of the lower limbs. We present here three cases of fibular hemimelia who underwent diagnosis and treatment in our hospital. Wee especially focus on the imaging findings of the plain radiographs, and we compare them with the findings found at another presentation.
Diagnosis ; Ectromelia* ; Extremities ; Fibula ; Lower Extremity

Sirenomelia is rare congenital malformation characterized by fusion of the lower extrimities associated anomalies included absence of urogenital system (bilateral renal agenesis, absent ureter, urinary bladder, absent internal and external genitalia), induced severe oligohydramnios, anorectal atresia, single umbilical artery, pulmonary hypoplasia. The incidence is 1:60000 births. Survival is extremely rare, and only possible, in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion. We report a case of sirenomelia without oligohydramnios diagnosed in early second trimester.
Abortion, Therapeutic ; Early Diagnosis ; Ectromelia* ; Female ; Humans ; Incidence ; Oligohydramnios* ; Parturition ; Pregnancy ; Pregnancy Trimester, Second* ; Prognosis ; Single Umbilical Artery ; Ureter ; Urinary Bladder ; Urogenital System

Sirenomelia, also known as the mermaid syndrome, is a rare and usually lethal congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. Early antenatal sonogram allows for earlier, and less traumatic termination of pregnancy, but usually it is impared by severe oligohydramnios related to bilateral renal agenesis. We diagnosed a sirenomelia with severe oligohydramnios at early second trimester after amnioinfusion and terminated. We report a case with a brief review of the literature.
Ectromelia* ; Female ; Humans ; Lower Extremity ; Oligohydramnios ; Pregnancy ; Pregnancy Trimester, Second

Sirenomelia is a lethal congenital malformation characterized by single or fused lower limbs associated with other severe genitourinary and lower gastrointestinal tract anomalies. Associated anomalies include malformation of vertebrae and pelvis, oligohydroamnios, renal agenesis, imperforate anus, internal and external genital anomaly and single umbilical artery. Recently, sirenomelia is diagnosed by ultrasound at first trimester or early second trimester. Termination of pregnancy is recommended as soon as diagnosis is made. We report a case of sirenomelia in a monoamniotic twin gestation detected at IUP at 12 weeks which was maintained till IUP at 37 weeks and delivered by cesarean section. On autopsy, typical finding of sirenomelia was noted, whereas the contralateral twin showed no abnormalities.
Anus, Imperforate ; Autopsy ; Cesarean Section ; Diagnosis ; Ectromelia* ; Female ; Fetus* ; Humans ; Lower Extremity ; Lower Gastrointestinal Tract ; Pelvis ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy, Twin* ; Single Umbilical Artery ; Spine ; Ultrasonography

Sirenomelia, characterised by a complete or incomplete fusion of the lower extremities, is a severe form of caudal defect affecting 1 in 60,000 births. Most cases of sirenomelia die within 5days after birth and are associated with abnormalities such as renal agenesis, urinary tract agenesis, single umbilical artery, etc. Thirdtrimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios whereas the amount of amniotic fluid may be efficient to allow diagnosis in the late first trimester. We report of a case of sirenomelia at 14 weeks of gestation using prenatal transvaginal and transabdominal ultrasonography.
Amniotic Fluid ; Diagnosis ; Ectromelia* ; Female ; Humans ; Lower Extremity ; Oligohydramnios ; Parturition ; Pregnancy ; Pregnancy Trimester, First ; Single Umbilical Artery ; Ultrasonography ; Urinary Tract

Poland's syndrome is characterized by hypoplasia or absence of the breast of nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilage or ribs. The syndrome involves a spectrum of conditions ranging from simple absence of pectoralis major muscle and breast to the defects noted by Poland as well as brachysyndactyly, ectromelia. Furthermore, there have been reports of Poland's syndrome associated with malignancies such as leukemia, malignant lymphoma,(1) and leiomyosarcoma.(2) We have experienced a 22-year-old woman presenting with asymmetric breast and abnormal position of nipple and accessory breast suggested Poland's syndrome. Treatment consisted of tissue expansion of hypoplastic breast and free nipple graft and excision of accessory breast. The purpose of the study was to review the present knowledge of Poland's syndrome and literature.
Breast ; Cartilage ; Ectromelia ; Female ; Humans ; Leukemia ; Nipples ; Poland ; Ribs ; Subcutaneous Tissue ; Tissue Expansion ; Transplants ; Young Adult