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It has recently been added to the small group of X\u2010linked dominant disorder with prenatal male lethality on the basis of a four\u2010generation pedigree in which only females were affected, male progeny was decreased and the number of spontaneous abortions was increased. In this clinical report, we describe a 2\u2010year\u2010old girl with full expression of the syndrome including skin defects, skeletal anomalies and recurrent fibromatosis of fingers and toes and her mother who presents with only multiple hypertrophic oral frenula. As previously demonstrated, our patients also show an extremely skewed X\u2010inactivation on blood cells, strongly suggesting that there is selective disadvantage for cells carrying the mutated gene on their active X chromosome. Terminal osseous dysplasia with pigmentary defects could represent an additional example of extreme intrafamilial variability as already described for other X\u2010linked dominant disorders. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31557","type":"journal-article","created":{"date-parts":[[2006,12,6]],"date-time":"2006-12-06T19:00:27Z","timestamp":1165431627000},"page":"51-57","source":"Crossref","is-referenced-by-count":11,"title":["Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family"],"prefix":"10.1002","volume":"143A","author":[{"given":"Anna","family":"Baroncini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Castelluccio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Morleo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorenza","family":"Soli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brunella","family":"Franco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,21]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<102::AID-AJMG2>3.0.CO;2-X"},{"key":"e_1_2_5_4_1","first-page":"1","article-title":"On brachydactyly and symphalangism","volume":"5","author":"Bell J","year":"1951","journal-title":"Treasury Hum Inheritance"},{"key":"e_1_2_5_5_1","first-page":"1101","article-title":"Genetic control of X\u2010inactivation and processes leading to X\u2010inactivation skewing","volume":"58","author":"Belmont JW","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1302\/0301-620X.56B4.746","article-title":"Recurring digital fibroma of infancy","volume":"56","author":"Bloem JJ","year":"1974","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000911)94:2<91::AID-AJMG1>3.0.CO;2-D"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-198609000-00017"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/106689690501300209"},{"key":"e_1_2_5_10_1","first-page":"168","volume-title":"Soft tissue tumors","author":"Enzinger FM","year":"1988"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0363-5023(05)80152-2"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/318802"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2006.04.012"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20444"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<1::AID-AJMG1>3.0.CO;2-8"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1067\/moe.2003.109"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30864"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.35.8.849"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1321"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1777"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiographics.21.3.g01ma21585"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/302105"},{"key":"e_1_2_5_23_1","first-page":"187","volume-title":"The genetics of hand malformations. 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