title: X-linked dominant inherited diseases with lethality in hemizygous males.
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: D000015:Abnormalities, Multiple / Q000235:genetics / Q000401:mortality / Q000473:pathology; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000401:mortality / Q000473:pathology; D000782:Aneuploidy; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009508:Nevus, Pigmented / Q000235:genetics / Q000401:mortality / Q000473:pathology; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009958:Orofaciodigital Syndromes / Q000235:genetics / Q000401:mortality / Q000473:pathology; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics / Q000401:mortality / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics / Q000401:mortality / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics / Q000401:mortality / Q000473:pathology; D013577:Syndrome; D014960:X Chromosome