1/7. Congenital balloon digits in two neonates caused by constriction rings.Balloon digits were found in two neonates with congenital constriction ring syndrome. The affected digits were the right long finger and right great toe. They were surgically treated at the age of 10 and 9 days, respectively. Morphologic improvement was dramatic after surgery. In cases with extensive enlargement, severe cyanosis, redness, and no subsidence of edema within several days after birth, early operative treatment may be necessary to maintain digit viability and prevent autoamputation due to circulatory embarrassment. It can also be helpful to prevent fibrosis of the subcutaneous tissue. Pathologic examination revealed marked proliferation of fibrous tissue and lymphatic vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/7. Cardiac malformations associated with the Holt-Oram syndrome--report on a family and review of the literature.The Holt-Oram syndrome (HOS) is characterized by mild-to-severe congenital cardiac defects and skeletal abnormalities of the upper limb. The most common cardiac disorder is an ostium secundum atrial septal defect (ASD), followed by ventricular septal defect (VSD) and ostium primum ASD. Electrocardiographic abnormalities, such as various degrees of atrioventricular block, have also been reported. In addition, hypoplastic peripheral vessels of the upper limbs have been observed. Here, we will report about a family with three sons having HOS, and we will detail the cardiac spectrum of HOS as reported in the literature.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/7. Arterial hypertension with brachydactyly in a 15-year-old boy.Autosomal dominant brachydactyly with hypertension is the only form of monogenic hypertension which is not sodium dependent. The disease is characterized by brachydactyly type E, short stature, arterial hypertension and aberrant loop of posterior inferior cerebellar artery (pica) causing neurovascular conflict. So far the syndrome was described in one family in turkey and two in canada. We report a case of a 15-year-old boy who was admitted because of arterial hypertension 160/100 mmHg. He complained also of attacks of bilateral numbness of hands with deterioration of visual field. Examination revealed short stature (156 cm) and bone deformities of hands and feet consistent with brachydactyly type E. ophthalmoscopy showed mild narrowing of retinal arteries. serum electrolytes, blood gases, and renal function were normal. renin activity and aldosterone concentrations were raised, and 24-h urinary excretion of catecholamines and urinary steroid profile were in normal range. Renal Doppler ultrasound was normal, but renal scintigraphy suggested vascular changes in the left kidney. Echocardiographic examination, besides mild left ventricular hypertrophy, was normal. magnetic resonance angiography (angio-MR) revealed bilateral abnormal pica loops and neurovascular conflict. Spiral angiotomography of renal arteries revealed narrow additional left renal artery. Both nonconsanguineous parents and younger brother were healthy, with normal height, without bone deformities, and had normal intracranial vessels. amlodipine and metoprolol were given, and blood pressure lowered to 143/87. Adding rilmenidine gave no effect and enalapril was then added. It led to further improvement in blood pressure control. To our knowledge, this is the first pediatric description of a sporadic form of autosomal dominant brachydactyly with hypertension with abnormalities of brain and renal arteries.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/7. mobius syndrome and transposition of the great vessels.A case of mobius syndrome was associated with transposition of the aorta and pulmonary artery, as well as acheiria. This combination of anomalies supports the hypothesis that mobius syndrome is caused by an intrapartum insult during the fourth to seventh week of gestation and is consistent with the vascular theory of embryopathogenesis.- - - - - - - - - - ranking = 4keywords = vessel (Clic here for more details about this article) |
5/7. genetics of acheiropodia ("the handless and footless families of brazil"): XI. Pathologic aspects.We report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in brazil in persons of Portuguese ancestry. The patient's parent were first cousins; she had two younger affected sisters. She presented with signs of vascular insufficiency of the lower stumps, which after amputation were found to lack large vessels below the knee.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/7. Symmetrical terminal transverse limb defects: report of a twenty-week fetus.A 20-week gestation hydropic Thai fetus is reported who had symmetrical absence of each hand and forefoot with persistence of digit-like nubbins on each limb. The histologic studies showed there was calcified acellular material in the digit-like nubbins, consistent with infarcted blood vessels, and cartilaginous structures that represented possibly the distal metacarpal articulating surface. The red blood cell indices of both parents were consistent with their being heterozygous for a hemoglobinopathy, such as alpha-thalassemia, which is common in Thais. The infarcted blood vessels could be the result of thrombosis of the digital arteries in the fetus due to a hemoglobinopathy such as hemoglobin Bart's, just as rabbit fetuses homozygous for brachydactyly have transverse terminal digit amputations following digital vessel occlusions due to macrocytic anemia. This was the only child with symmetrical absence of the hands and feet identified among 123,489 liveborn and stillborn infants surveyed for major malformations.- - - - - - - - - - ranking = 3keywords = vessel (Clic here for more details about this article) |
7/7. Microvascular surgery in the reconstruction of congenital hand anomalies.Several congenital upper extremity anomalies may be treated using micro-surgical techniques. Long-term studies have shown the usefulness of microvascular toe transfer in the treatment of adactyly with the incorporation of the transferred digit into grasp-and-pinch function. The use of free fibular transfer for long bone deformities of the forearm has been shown to provide bony union as well as growth. Factors that must be considered include patient age, vessel availability, and lack of other possible reconstructive options.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |