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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1983-9-9
|
| pubmed:abstractText |
X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
64
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1-23
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:6873941-Abnormalities, Multiple,
pubmed-meshheading:6873941-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:6873941-Aneuploidy,
pubmed-meshheading:6873941-Child,
pubmed-meshheading:6873941-Female,
pubmed-meshheading:6873941-Genes, Dominant,
pubmed-meshheading:6873941-Genetic Counseling,
pubmed-meshheading:6873941-Genetic Diseases, Inborn,
pubmed-meshheading:6873941-Humans,
pubmed-meshheading:6873941-Infant,
pubmed-meshheading:6873941-Infant, Newborn,
pubmed-meshheading:6873941-Male,
pubmed-meshheading:6873941-Nevus, Pigmented,
pubmed-meshheading:6873941-Ornithine Carbamoyltransferase Deficiency Disease,
pubmed-meshheading:6873941-Orofaciodigital Syndromes,
pubmed-meshheading:6873941-Pedigree,
pubmed-meshheading:6873941-Pigmentation Disorders,
pubmed-meshheading:6873941-Sex Chromosome Aberrations,
pubmed-meshheading:6873941-Skin Diseases,
pubmed-meshheading:6873941-Syndrome,
pubmed-meshheading:6873941-X Chromosome
|
| pubmed:year |
1983
|
| pubmed:articleTitle |
X-linked dominant inherited diseases with lethality in hemizygous males.
|
| pubmed:publicationType |
Journal Article
|