Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The main features of Dubowiz syndrome are bird headed dwarfism and a typical facial configuration. Including two own patients 13 cases among 8 siblings are known in the literature. Two own cases of Dubowitz syndrome in two sisters are described, one of them with hypogammaglobulinemia and neuroblastoma, the other one with complete Ig A deficiency and malignant lymphoma. A propable relationship between immundeficiency and malignancies is discussed. Until 1973 151 malignant tumors with primary immundeficiency had been registrated. This paper is the first description of two cases of Dubowitz syndrome with immunodeficiency and malignant neoplasms.
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PMID:[Dubowitz syndrome with immunodeficiency and solid malignant tumor in two siblings (author's transl)]. 91 26

The purpose of the article is to update information concerning Dubowitz syndrome. A review of the literature since the disorder was originally described in 1965 is presented. In addition, case reports are presented for two siblings described in 1971 describing speech and dental development and current clinical findings. Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis, abnormal pinnae, broad nose, and micrognathia. Overt cleft palate or submucous cleft palate is not a prevalent finding (16%). High-pitched and hoarse voice quality appears to be a constant feature. There is the suggestion of an association with leukemia, lymphoma, and neuroblastoma. Inheritance appears clearly autosomal recessive.
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PMID:The Dubowitz syndrome: a retrospective. 387 2

A clinical assessment of gestational age using four different methods was performed in the same population of 358 Cameroonian newborn infants with the aim of determining the most applicable in the local context. Method applicability was compared in terms of validity, accuracy, reliability, and ease of administration. The gestational age ranged from 25 to 44 weeks. The infants were evaluated within 72 h from birth, using the scoring methods of Farr (FSM), Dubowitz (DSM), Ballard (New Ballard Score--NBS) and Eregie (ESM). The DSM was the most valid with a 93 per cent agreement within +/-2 weeks of gestational age by dates followed by the ESM with 92.4 per cent. The NBS and the FSM showed lower validity of 85.6 per cent and 78.3 per cent respectively. The ESM was the most accurate with a mean difference (MD) in weeks (+/-1 SD) between gestational age by method and gestational age by dates of 0.259+/-1.376, followed by the NBS with 0.355+/-1.51. The DSM was fairly accurate with a MD of 0.500+/-1.31, and the FSM the least accurate with a MD of 1.228+/-1.495. The DSM was the most reliable with a high correlation coefficient (r) of 0.94. The NBS and the ESM had comparable reliability with correlation coefficient of 0.93 each. The easiest to administer was the ESM, completed in an average of 41 s, followed by the FSM in 1 min 22 s. The NBS was completed in 2 min 48 s and the DSM in 4 min 28 s. We concluded that the Eregie model has comparable validity and reliability to the Dubowitz score but is more accurate, simple, and very easy to administer. It is therefore recommended where the workload is heavy and health personnel limited, as is the case in developing countries.
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PMID:Assessment of gestational age in the Cameroonian newborn infant: a comparison of four scoring methods. 1551 Jul 60