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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A careful analysis of 53 deaths in a series of 284 patients suggests the following points are important in reducing risk: 1. Imperforate anus is a complicated lesion which should only be done by experienced surgeons in a large-volume pediatric surgical center in order to avoid the wrong choice of procedure. 2. A careful colostomy technique is essential to avoid herniation, prolapse, evisceration or obstruction. 3. Hyperchloremic acidosis from a large rectourinary fistula into the distal blind pouch of a colostomized high type lesion must be watched for. 4. The mucocutaneous junction (natural or surgical) must be kept free from stenosis to avoid fecalomas or enterocolitis-sepsis sequelae. 5. Neonatal pullthrough should be avoided as they carry an increased risk, make handling of fistulas difficult, and may lead to the placement of the bowel outside of the continence muscles.
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PMID:Imperforate anus: an analysis of mortalities during a 25-year period. 52 50

We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmorphism (downward slanted palpebral fissures, ptosis, microretrognathia), cleft epiglottis, and developmental delay. The younger child had stenosis of the pulmonary arteries, complex urogenital malformations, and anal atresia. In the oldest patient, the hamartoma caused precocious puberty of the central type, combined with complete hGH deficiency. Both patients showed bony anomalies of the extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, syndactyly, and nail hypoplasia. Together with the absence of anomalies of cholesterol metabolism, a combination of oral frenula, laryngeal malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow the delineation of Pallister-Hall syndrome, even when a CNS tumour is absent. The radiological abnormalities are helpful in differentiating Pallister-Hall syndrome from the other syndromes in which hypothalamic hamartoblastoma is observed. This is of major importance for genetic counselling, since Pallister-Hall syndrome may be a dominantly inherited disorder, thus contrasting with most of the other disorders with the CAVE phenotype, which are recessively inherited.
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PMID:Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. 747 51

We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).
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PMID:Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome. 1070 55

In children, it is usually one of the stages of treatment of lower alimentary congenital defects. Such patients require long-term professional medical and nursing attention as well as solicitous care of the parents at home. The aim of the study was the analysis of educational and nursing problems that are faced by parents of children with stoma, the influence of a nurse on the quality of their care, and determination of nurse educational assignment in preparing the parents for the care at home. The study was performed in the group of 30 parents of children, 0-2 years old, with lower alimentary congenital defects who had intestinal stoma inserted in 2003. The questionnaire revealed that the main causes of the stoma were Hirschsprung disease (40%), anal atresia (37%), perianal fistula, intestinal perforation and necrosis (10% each). All responders stated that the knowledge acquired in the ward was of great help while nursing a child at home. The results showed that above 80% of parents had the opportunity to change the stomal sacks by themselves, once or more times, in the presence of medical staff. Skin changes (33%) were the most common complications in case of stoma, which could encounter for inappropriate care. Other complications included hemorrhage (20%), prolapse (13%), and stoma narrowing (10%).
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PMID:Educational and nursing problems of parents of children with stoma. 1611 55

We report a female infant with partial trisomy 8p (8p11.2-->pter) and deletion of 13q (13q32-->qter). She was born with mild hypotonia, intrauterine growth retardation, microcephaly, micrognathia, large low set ears, pectus excavatum, anteriorly placed anus, and bilateral clinodactyly. Echocardiography showed left ventricular hypertrophy, bicuspid aortic valve, dilatation of the aorta and pulmonary artery, and prolapse of atrio-venticular valve leaflets. Cytogenetic investigation of her sister and her father showed that the altered region resulted from a balanced translocation between the part of the long arm of chromosome 13 and short arm of chromosome 8. In partial trisomy 8p, the clinical picture of the patients comprises hypotonia, structural brain abnormalities, facial anomalies including a large mouth with a thin upper lip, a high arched palate, a broad nasal bridge, an abnormal maxilla or mandible, malformed, low set ears, and orthopedic anomalies. Although patients with proximal deletions of 13q that do not extend into band q32 have mild to moderate mental and growth delays with variable minor anomalies, patients with more distal deletions including at least part of band q32 usually have major malformations such as retinoblastoma, mental-motor growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. To our knowledge partial trisomy 8p and partial monosomy of 13q have not been reported previously in the same person.
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PMID:Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report. 2161 86

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated with mutations in the MLL2 gene in some cases were also observed deletions of KDM6A. This study describes three children with autism spectrum disorders (ASDs) and KS and rehabilitative intervention that must be implemented.
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PMID:Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases. 2612 5