{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:51:49Z","timestamp":1777884709931,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2007,3,1]],"date-time":"2007-03-01T00:00:00Z","timestamp":1172707200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2007,3]]},"abstract":"<jats:p>We recently performed an autopsy on a premature female newborn with rhizomesoacromelic limb shortening of the upper and lower extremities, craniofacial dysmorphism, and chondrodysplasia punctata. A diagnosis of Conradi-Hunermann-Happle syndrome or X-linked dominant chondrodysplasia punctata was made based on elevated cholest-8(9)-ene-3 \u03b2-ol in serum and tissues. Molecular analysis of EBP, mutations of which are responsible for this malformation syndrome, revealed a monoallelic missense mutation, c.328 G&gt;A (R110Q). We present this case as an illustration of an unusually severe manifestation of this disorder in a female, with additional unusual features including lack of skin manifestations and apparent bilateral symmetry of the skeletal findings.<\/jats:p>","DOI":"10.2350\/06-06-0111.1","type":"journal-article","created":{"date-parts":[[2007,3,7]],"date-time":"2007-03-07T09:36:20Z","timestamp":1173260180000},"page":"142-148","source":"Crossref","is-referenced-by-count":9,"title":["A Severely Affected Female Infant with X-Linked Dominant Chondrodysplasia Punctata: A Case Report and a Brief Review of the Literature"],"prefix":"10.1177","volume":"10","author":[{"given":"Dinesh","family":"Rakheja","sequence":"first","affiliation":[{"name":"Department of Pathology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USA"},{"name":"Department of Pathology, Children's Medical Center, Dallas, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles P.","family":"Read","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Hull","sequence":"additional","affiliation":[{"name":"Department of Pathology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard L.","family":"Boriack","sequence":"additional","affiliation":[{"name":"Department of Pathology, Children's Medical Center, Dallas, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles F.","family":"Timmons","sequence":"additional","affiliation":[{"name":"Department of Pathology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USA"},{"name":"Department of Pathology, Children's Medical Center, Dallas, TX, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,3,1]]},"reference":[{"key":"bibr1-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.321"},{"key":"bibr2-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.7.558"},{"key":"bibr3-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.06.045"},{"key":"bibr4-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<260::AID-AJMG17>3.0.CO;2-R"},{"key":"bibr5-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90983-N"},{"key":"bibr6-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)39745-5"},{"key":"bibr7-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118223"},{"key":"bibr8-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)65020-9"},{"key":"bibr9-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1086\/373938"},{"key":"bibr10-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C"},{"key":"bibr11-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5"},{"key":"bibr12-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1086\/342668"},{"key":"bibr13-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10510"},{"key":"bibr14-06-06-0111.1","first-page":"190","volume":"11","author":"Spranger JW","year":"1971","journal-title":"Humangenetik"},{"key":"bibr15-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01281.x"},{"key":"bibr16-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1038\/10350"},{"key":"bibr17-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1038\/10357"},{"key":"bibr18-06-06-0111.1","unstructured":"Online Mendelian Inheritance in Man. http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?id=302960."},{"key":"bibr19-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(98)70158-9"},{"key":"bibr20-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0844-x"},{"key":"bibr21-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1980.03300410037022"},{"key":"bibr22-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00329.x"},{"key":"bibr23-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<213::AID-AJMG3>3.0.CO;2-R"},{"key":"bibr24-06-06-0111.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90367-4"},{"key":"bibr25-06-06-0111.1","unstructured":"The Human Gene Mutation Database [database on the Internet] [cited 2006 May 1]. 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