Anencephaly and Other Congenital Abnormalities

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Congenital malformations associated with anencephaly and iniencephaly.

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequ...

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Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

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Chromosomal abnormality associated with congenital macroglossia and other abnormalities.

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and vari...

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Congenital urogenital abnormalities in children with congenital hypothyroidism

Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hund...

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Aberrant Lacrimal Gland Associated with Other Congenital Abnormalities.

AN aberrant lacrimal gland is an unusual congenital and developmental abnormality. The clinical picture differs from that of an ectopic lacrimal gland, because in the aberrant forms, the main lacrimal gland is in its place and the other gland is additional. In ectopia, the original lacrimal gland is considered to have luxated, and this is not as rare as the appearance of aberrant tissue (Duke-E...

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ژورنال

عنوان ژورنال: BMJ

سال: 1960

ISSN: 0959-8138,1468-5833

DOI: 10.1136/bmj.1.5169.309