1/43. de lange syndrome. Clinical, dermatoglyphic and chromosomal findings in nine cases.Nine cases of the de lange syndrome are reviewed. Our findings show that the facial characteristics in the present series and in previously reported cases are remarkably similar. Dermatoglyphically, we have documented an increased incidence of tibial loops on the hallucal area and increased incidence of single flexion creases of the digits from this study series. Our study also supports the previous authors who have recorded an increased incidence in radial loops on the second and third digits and increased incidence of simian lines. We have not been able to document a consistent chromosomal defect.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
2/43. Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories.We aimed to discuss the prenatal diagnosis and pathological features of sirenomelia, and to review current embryogenic theories. We observed two sirenomelic fetuses that were at the 19th and 16th gestational week respectively. In the former, transvaginal ultrasound revealed severe oligohydramnios and internal abortion, whereas bilateral renal agenesis, absence of a normally tapered lumbosacral spine, and a single, dysmorphic lower limb were detected in the latter. In both cases, x-rays and autoptic examination allowed categorization on the basis of the skeletal deformity. Subtotal sacrococcygeal agenesis was present in both cases. Agenesis of the urinary apparatus and external genitalia and anorectal atresia were also found. classification of sirenomelia separately from caudal regression syndrome is still debated. Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum. Third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
3/43. Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.We report on a Thai man who had triphalangeal thumb-polysyndactyly syndrome (TPTPS, MIM *190605) and his daughter who had tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS, MIM *188770). The father had polysyndactyly of triphalangeal thumbs, syndactyly of fingers, duplicated distal phalanx of the left great toe, brachymesophalangy of toes, and the absence of middle phalanges of some toes. He was diagnosed as having TPTPS. His daughter was more severely affected, having complete syndactyly of five-fingered hands in rosebud fashion (Haas-type syndactyly), hypoplastic tibiae, absent patellae, thick and displaced fibulae, preaxial polysyndactyly of triphalangeal toes, and cutaneous syndactyly of some toes, the manifestations being consistent with THPTTS. Having two different syndromes in the same family suggests that they are actually the same disorder. A literature survey showed that there have been several families where THPTTS occurred with TPTPS or Haas-type syndactyly (and/or preaxial polydactyly type 2, PPD2). In addition, all loci for TPTPS, THPTTS, and PPD2 (and/or PPD3) have been assigned to chromosome band 7q36. These findings support our conclusion that TPTPS, PPD2 (and/or PPD3), and Haas-type syndactyly are a single genetic en-tity (THPTTS). We propose to call the condition "tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome." copyright 2000 Wiley-Liss, Inc.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
4/43. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 1.2102851755823keywords = artery (Clic here for more details about this article) |
5/43. Sirenomelia with esophageal atresia.Sirenomelia, is a rare fatal condition characterized by fusion of the lower extremities. It has been suggested that sirenomelia is a severe form of caudal regression syndrome complex for which the pathogenesis is controversial. Our case is a sirenomelia associated with esophageal atresia and tracheoesophageal fistula. In the literature, it has been pointed out that the VATER association may represent a less severe form of sirenomelia but no sirenomelia case associated with esophageal atresia and tracheoesophageal fistula has been found. Finally, we detected a single large artery which diverts the blood of the embryo's caudal part to the placenta with the detailed autopsy especially with focusing on the abdominal vasculature. This vascular steal is thought to be the main pathogenic mechanism of the condition.- - - - - - - - - - ranking = 2.2102851755823keywords = artery, single (Clic here for more details about this article) |
6/43. Therapy in unilateral sirenomelia: report of one case.A 17-month-old male infant was referred to us with a unilateral sirenoid malformation in 1970. Besides urogenital and lumbosacral vertebral defects, the right knee was flexed 160 degrees, and the hip externally rotated and abducted. The thigh and calf were connected by a soft tissue bridge with the heel fixed to the ischial region. Arteriography showed that the foot and lower leg were supplied by the profunda femoris artery through the soft tissue bridge. The lower leg had only a very small supply from the popliteal artery. Therefore, an amputation by disarticulation at the knee joint was performed. A few months later, in addition, the hip flexion contracture was released. The boy was taught to walk with a prosthesis. At the age of 31 years, he has a sedentary job and is more troubled by his urogenital than his orthopaedic defects. He prefers to walk with crutches and for a few years has no longer used his prosthesis.- - - - - - - - - - ranking = 2.4205703511646keywords = artery (Clic here for more details about this article) |
7/43. Caudal regression syndrome versus sirenomelia: a case report.We describe a newborn with clinical features of sirenomelia including fused lower limbs with medial position, absence of fibula, anal atresia, bilateral renal agenesis, and a single large umbilical artery. Recent literature describing the etiology of sirenomelia and relationship to caudal regression syndrome is reviewed.- - - - - - - - - - ranking = 4382.4111885088keywords = umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
8/43. Sirenomelia sequence: first-trimester diagnosis with both two- and three-dimensional sonography.OBJECTIVE: To describe the sonographic findings of sirenomelia during the first trimester on both two-dimensional sonography with color Doppler imaging and three-dimensional sonography. methods: Two cases of sirenomelia in primiparous patients with histories of infertility are described. The diagnosis was made on the basis of two-dimensional sonography, and three-dimensional sonography was used to further characterize the findings. RESULTS: Both fetuses had size-date discrepancies, increased nuchal translucency, large intra-abdominal vessels, and 2-vessel umbilical cords. Both pregnancies were terminated by dilation and curettage after the patients viewed the three-dimensional pictures of the fetuses. CONCLUSIONS: During the first trimester of pregnancy, rare and lethal anomalies can be diagnosed with a high degree of confidence if a thorough, age-dependent anatomic survey of the fetus is performed.- - - - - - - - - - ranking = 76.951440536548keywords = umbilical (Clic here for more details about this article) |
9/43. Sirenomelia in uneventful pregnancy.A rare case of sirenomelia at 38 weeks of gestation is reported. Fusion of the lower extremities and incomplete development of the bony pelvis was associated with agenesis of the urinary and genital systems, anorectal atresia and a single large umbilical artery. There was complete situs inversus of the single lower limb. This was composed of two partially fused femurs, a common tibia without fibula, and a rudimentary foot having three metatarsal bones and their corresponding toes. The present case was also interesting for its association with hypoplasia of the lungs. The pathogenesis of sirenomelia is discussed.- - - - - - - - - - ranking = 4383.4111885088keywords = umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
10/43. Sirenomelia dipus in a dizygotic twin.A rare case of sirenomelia in a LBW, IUGR & second of a dizygotic twin having multiple congenital anomalies is being reported. Apart from the features of sirenomelia, the newborn had a single umbilical artery, radial hypoplasia, total anorectal & urogenital agenesis and undetermined sex. The single umbilical artery had a normal origin from the iliac artery. There was no Vitelline arterial steal phenomenon. Theories put forward regarding etiopathogenesis are discussed. We conclude that the anomalies in the present case are difficult to be explained with earlier proposed theories. This puts an emphasis on reconsideration of old theory of genetic injury to the embryo by unknown factors.- - - - - - - - - - ranking = 189217.29959449keywords = single umbilical artery, single umbilical, umbilical artery, umbilical, artery, single (Clic here for more details about this article) |
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