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Page 1 de 26 résultats
Latrodectus Facies After Latrodectus Hesperus Envenomation in a Pediatric Patient.
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[Leonine facies in carcinoid syndrome].
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Carcinoid syndrome is a rare disorder caused when elevated levels of vasoactive substances secreted by a carcinoid tumor fail to be metabolized by the liver. This can occur for a variety of reasons including metastatic invasion of the organ. Carcinoid syndrome results in elevated levels of
Hydrops fetalis associated with congenital myotonic dystrophy.
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We report a case of congenital myotonic dystrophy in a newborn infant who presented with hydrops fatalis. Clinical features were hypotonia, generalized edema, pleural effusion, respiratory distress, scalp hematomas, and tented mouth facies. Review of literature shows that congenital myotonic
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
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Kabuki syndrome (MIM 147920) is a well-described, multiple congenital anomaly syndrome characterized by growth and developmental delay, cardiac, renal, and vertebral anomalies, as well as persistent fetal finger pads and distinct facial features. Facies are characterized by long palpebral fissures
Congenital generalized lymphangiectasia: a rare developmental disorder for non-immune fetal hydrops.
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Firstly described by Rudolf Virchow in the 19th century, congenital generalized lymphangiectasia is a rare entity characterized by dilation of lymphatic vessels, and was recently classified in primary or secondary lymphangiectasia. Generalized forms may be diagnosed during pre-natal follow-up with
Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
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We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their
Rare acute kidney injury secondary to hypothyroidism-induced rhabdomyolysis.
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OBJECTIVE
Acute kidney injury (AKI) caused by hypothyroidism-induced rhabdomyolysis is a rare and potentially life-threatening syndrome. The aim of this study was to investigate the clinical characteristics of such patients.
METHODS
We retrospectively analyzed five patients treated at the Second
Clinical spectrum of infantile free sialic acid storage disease.
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Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes. Only a few cases have been described. We report on three new cases of ISSD with
18q+, the progeny of a balanced translocation t(1;18)mat: case report with necropsy findings.
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A female infant with additional genetic material on the long arm of chromosome 18 is described. Cytogenetic studies of the infant and her mother showed that the altered region resulted from an unbalanced translocation of part of the long arm of chromosome 1. This chromosomal abnormality has not been
Microdeletion 22q11 in complex cardiovascular malformations.
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Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now
Adenotonsillectomy for upper airway obstruction carries increased risk in children with a history of prematurity.
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To define better the clinical presentation and perioperative outcome in children undergoing adenotonsillectomy (T&A) for relief of upper airway obstruction (UAO), we reviewed the hospital records of 60 consecutive, otherwise normal children aged 12 years or younger. Seven patients with trisomy 21,
Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
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We describe a 3(1/2)-year-old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital
[Congenital Hypothyroidism: 2 observed cases at the Gabriel Toure University Hospital of Bamako, Mali].
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We report two observations of congenital hypothyroidism diagnosed in 2011 in the university hospital of Gabriel Toure in Bamako. The first occurred in a male infant of 40 days, admitted for respiratory distress and anterior compressive cervical swelling. Although his neonatal period occurred without
Case report. Kocher-Debre-Semelaigne syndrome with pericardial effusion.
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We report a 10-year-old female child with hypothyroidism and limb muscle pseudohypertrophy (i.e. Kocher-Debre-Semelaigne syndrome) with pericardial effusion. The child presented with generalized swelling, breathlessness and difficulty in walking and in getting up from sitting position (of chronic
[Ten years' experience with our method of wrist joint arthrodesis].
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OBJECTIVE
Total arthrodesis of the carpal joint is a complex operative procedure that results in the restoration of joint stability in frontal and sagittal planes and improvement in function of the tendons of digits' extensors and flexors. We developed our own method based on the use of a special
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