Cases reported "Ectromelia"

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1/16. 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.
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2/16. Roberts syndrome, normal cell division, and normal intelligence.

    Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and normal cell division with typical clinical features of the RS. We report a case of a six-year-old male of clinical and radiologic findings of typical RS with normal cell division and normal intelligence.Although he showed growth retardation, his intelligence was normal. Van Den Berg and Francke later reported that 79 out of 100 cases of Roberts syndrome had premature cell separation (PCS). We think that this case may demonstrate severe expression of the Roberts syndrome even though PCS is not exhibited. The limb involvement of this case was symmetrical, and he showed phocomelia of upper limbs, equinus valgus deformity of ankle, aplasia of fibula, and shortness of fifth toes while his hands and feet were normal with 5 rays each. craniofacial abnormalities of this case were typical; he showed scaphocephaly, mild hypertelorism, mandibular hypoplasia, dysplastic helix of ear, narrowing of external auditory canal, and cleft palate with wide gap.This report supports the theory that normal intelligence can make social-personal adjustment possible even if all of the stigmata of Roberts syndrome is present.
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3/16. Sirenomelia, the mermaid syndrome--detection in the first trimester.

    The sirenomelia sequence with fusion, rotation, hypotrophy or atrophy of the lower limbs in combination with severe urogenital and gastrointestinal malformations is a rare and usually lethal disorder.We present the case of a 28-year-old woman, who was referred to our department because of an intraabdominal cystic structure in the 9th week of gestation. Subsequent scans confirmed the diagnosis of a sirenomelia sequence with the fusion of the lower extremities without fusion of the bones according to Stocker I classification. The size of the intraabdominal cyst decreased during follow-up. After counseling, termination of pregnancy was induced. The postmortem X-ray confirmed the ultrasound diagnosis.The exact etiological mechanism of this malformation is still unknown. An early alteration of the embryological vascular network damaging the caudal mesoderm is thought to lead to arrested development of the lower limbs and other affected organs. The cyst we saw in the 9th week might fit with this theory, either as an expression of the complex malformation of the lower abdomen or as the sonographic appearance of necrosis.
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4/16. magnetic resonance imaging, computed tomography, and conventional X-ray in 3 cases of symmelia.

    BACKGROUND: Symmelia is a rare birth defect, often combined with severe malformations of the urogenital system and the lower gastrointestinal tract. Additionally, a deformed pelvis and various degrees of separation of the lower limbs are present. CASES: We report the examination findings of 3 autopsy specimens of symmelia using magnetic resonance imaging (MRI) and computed tomography (CT) with 3-dimensional (3D) reconstructions, and conventional X-ray. CONCLUSIONS: MRI and CT with the addition of 3D visualization can be used additionally with autopsy and conventional X-ray images in the investigation of such complex anatomical abnormalities.
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5/16. Proximal phocomelia and radial ray aplasia in fetal valproic syndrome.

    We describe a child with multiple congenital anomalies born to a women treated with valproic acid (1000 mg/day) for post traumatic epilepsy. Defects included the typical dysmorphism of the "fetal valproic syndrome", bilateral radial ray aplasia, unilateral proximal phocomelia of the upper limb, kidney hypoplasia and brain atrophy. A direct teratogenic effect of valproic acid is suspected on an experimental basis, and validated by two previous reports of radial defects after valproic acid exposure.
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6/16. Phocomelia and additional anomalies in two sisters.

    Two daughters of non-consanguineous normal parents had phocomelia of both lower extremities with 4-toed feet. The older sister also had phocomelia of the left upper extremity with 5 finger rays; she died immediately after birth. autopsy disclosed a congenital diaphragmatic hernia, common mesentery and agenesis of the gallbladder, and normal female genitalia. In addition, the younger sister showed a bony skull defect, diastasis recti, agenesis of the uterus and agenesis or atresia of the vagina, hypoplasia of the sacrum and hypo/dysplasia of the pelvic bones. Her growth and mental development were normal. The patterns of anomalies of the two sisters do not fit into any of the syndromes featuring phocomelia; there was no prenatal exposure to thalidomide or any other possible teratogen.
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7/16. Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity?

    We report on two infants born at term with amelia/phocomelia and a striking appearance with facial hemangiomas and micrognathia. The upper limbs were absent and the lower limbs were extremely short, containing only a tibia; the phocomelic feet lacked one to four lateral rays. There was no known teratogen exposure and the infants were born in different regions of the USA. This may be considered an unusually symmetrical and rare form of FFU dysostosis, or a separate entity.
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8/16. Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

    Ectrodactyly is a developmental defect of the distal limbs characterized by marked clinical variability and genetic heterogeneity, also reflected in the observation of different chromosome abnormalities non randomly associated with longitudinal postaxial limb deficiencies. The one most frequently found in patients with split hand-split foot (SHSF) involves chromosome band 7q22. Recently, structural anomalies of chromosome 6q21 have been reported in 2 unrelated patients with SHSF, suggesting that this region may also contain genes responsible for limb development [Braverman et al., 1993. Am J Hum Genet, suppl 53: 410; Viljoen and Smart, 1993. Clin Dysmorph 2: 274-277]. We report on a third patient who had a de novo, apparently balanced t(6;7)(q21;q31.2) translocation and bilateral ulnar aplasia with postaxial oligodactyly. In spite of the different phenotypic effects observed in these 3 patients, we consider our case as further evidence that genes in 6q21 may play a role in distal limb development.
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9/16. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.

    We report 4 cases and review 7 from the literature with a pattern suggesting a variable early lethal multiple congenital anomaly syndrome. This was first reported by von Voss et al. [1979: "Klinische Genetik in der Padiatrie," pp 70-74] and Cherstvoy et al. [1980: Lancet ii:485], and can affect upper limbs, face, brain, heart, lungs, urogenital and gastrointestinal systems, vertebrae and ribs, and can include thrombocytopenia. The initial cases had occipital encephaloceles and phocomelia, but milder cerebellar anomalies and radial ray defects may be seen instead. Both sexes are affected and parental age is not increased. This may be heterogeneous, but two consanguineous families, one with recurrences, suggest autosomal recessive inheritance in at least some instances, although the recurrences had milder brain findings than the other cases. The original designation of DK-phocomelia syndrome is inaccurate, since arm findings may be limited to radial anomalies; we suggest instead the von Voss-Cherstvoy syndrome. This may be heterogeneous, but at present, phenotypic overlap prevents differentiation of subgroups. The disorder appears to be part of a group of syndromes with radial and hematologic abnormalities.
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10/16. Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.

    We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance.
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