Cases reported "Abnormalities, Multiple"

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1/211. Diprosopus (partially duplicated head) associated with anencephaly: a case report.

    Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.
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keywords = ray
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2/211. Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.

    We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs. Radiographic findings at necropsy included increased density in all bones, most marked in the skull, mandible, and pubis. The ribs were very short, abnormally modeled, and wide anteriorly. The vertebrae were posteriorly hypoplastic and wedged, particularly in the cervical and lumbar regions. The femora and tibiae were short with wide distal metaphyses, undermodeled diaphyses, and coxa vara. The humeri, radii, and ulnae were also short and undermodeled with proximal and distal flare. Chondro-osseous morphology showed short chondrocyte columns, extension of hypertrophic cells into the metaphysis, and overgrowth of perichondral bone. In the resting cartilage there were large chondrocytes containing a homogeneous material staining pink with von Kossa trichrome, gray with toluidine blue, and black with silver methenamine. The cortical bone was lacking and the trabecular bone was hypercellular, thick, and coarse. Ultrastructurally, the resting zone chondrocytes were large and round with condensed chromatin and dilated loops of rough endoplasmic reticulum. The radiographic and histopathologic findings in this case are unique and differ from those seen in other reported lethal osteosclerotic skeletal dysplasias.
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keywords = ray
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3/211. Confirmation of arterial deficiencies in a limb with necrosis following clubfoot surgery.

    This study describes postoperative necrosis of the hallux and first ray in a child with clubfoot. Arteriography performed on this child's lower limbs demonstrated, in the operated leg, hypoplasia of both the anterior and posterior tibial arteries and failure of the dorsalis pedis artery to traverse the tarsus and complete the deep plantar arch. Previously, congenital vascular deficiency was suggested to predispose such operated limbs to necrosis. These findings confirm the association between vascular deficiency and necrosis. In this present study, the metabolic demands of wound healing were sufficient in a limb with vascular deficiency to cause localized distal hypoperfusion leading to cyanosis and necrosis of the hallux and medial foot.
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4/211. Bilateral coronoid process hyperplasia with limitation on mouth opening: case report.

    Coronoid process hyperplasia with limitation of mouth opening is rare. The pathology is often ignored, but it can be easily detected using dental panoramic view of x-ray films. Definition of the coronoid process hyperplasia can be made by measuring the height of coronoid process and the ratio of coronoid/condyle height on lateral cephalometric x-ray film. Etiology of the coronoid process hyperplasia can be congenital or acquired. Differentiation of the diagnosis may be difficult. The congenital type occurs at early age with clinical manifestations. Proposed hypotheses for the formation of coronoid process hyperplasia include increased activity within the temporalis muscle from conditions such as functional stress, compression, and tension. For patients with coronoid process hyperplasia and restriction on mouth opening, conservative treatment should first be attempted. Surgical treatment is considered if conservative treatment fails. Coronoidectomy with early mobilization and aggressive physiotherapy corrects the problem. We present a patient with coronoid process hyperplasia with limitation of mouth opening who was successfully treated.
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ranking = 2.0024199172198
keywords = ray, x-ray
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5/211. Uterine anomalies associated with renal agenesis: role of gray scale ultrasonography.

    Anomalies of the female genital tract were successfully characterized by gray scale ultrasonography in three cases; all three were found in association with unilateral renal agenesis. Findings at intravenous urography prompted ultrasound studies. The high incidence of genital tract anomalies associated with unilateral renal agenesis, particularly in females, indicates ultrasonography be used to examine the pelvis (as well as the renal bed). Further diagnostic procedures can then be assessed on a more informed basis.
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keywords = ray
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6/211. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.

    patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with x-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.
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keywords = ray
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7/211. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

    We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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ranking = 5
keywords = ray
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8/211. Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?

    We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males.
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ranking = 6
keywords = ray
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9/211. Unilateral cryptophthalmia.

    Two patients had the variable clinical features of unilateral cryptophthalmia. A 5-month-old boy had isolated unilateral cryptophthalmia: a small boney orbit, deformed optic canal, and a small amorphous mass with no normal intraocular tissue representing the globe. No extraocular muscles or optic nerve were identified by B-scan ultrasound or by computed axial tomography x-ray techniques. The second patient, a 13-year-old girl, had unilateral cryptophthalmia, and numerous systemic abnormalities including a head circumference less than the third percentile, severe mental retardation, hypoplasia of the left side of the head, and a left facial cleft deformity. She also had contractures of hips, knees and ankles, and bilateral spasticity and jerky movements. The left boney orbit was contracted and deformed and contained a small amorphous tissue with no ocular detail, as revealed by B-scan and computed tomography scan.
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ranking = 1.0012099586099
keywords = ray, x-ray
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10/211. Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis.

    Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting ehlers-danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left anterosuperior branch, and the chest x-ray showed an excavated pulmonary trunk with normal pulmonary flow.
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ranking = 1.0012099586099
keywords = ray, x-ray
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