Abstract
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.
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / mortality
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Abnormalities, Multiple / pathology
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Amino Acid Metabolism, Inborn Errors / genetics
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Amino Acid Metabolism, Inborn Errors / mortality
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Amino Acid Metabolism, Inborn Errors / pathology
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Aneuploidy*
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Child
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Female
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Genes, Dominant
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Genetic Counseling
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Genetic Diseases, Inborn / genetics*
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Genetic Diseases, Inborn / mortality
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Genetic Diseases, Inborn / pathology
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Humans
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Infant
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Infant, Newborn
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Male
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Nevus, Pigmented / genetics
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Nevus, Pigmented / mortality
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Nevus, Pigmented / pathology
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Ornithine Carbamoyltransferase Deficiency Disease
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Orofaciodigital Syndromes / genetics
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Orofaciodigital Syndromes / mortality
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Orofaciodigital Syndromes / pathology
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Pedigree
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Pigmentation Disorders / genetics
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Pigmentation Disorders / mortality
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Pigmentation Disorders / pathology
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Sex Chromosome Aberrations / genetics
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Sex Chromosome Aberrations / mortality
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Sex Chromosome Aberrations / pathology
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Skin Diseases / genetics
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Skin Diseases / mortality
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Skin Diseases / pathology
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Syndrome
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X Chromosome