{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T04:53:40Z","timestamp":1780635220446,"version":"3.54.1"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,7,21]],"date-time":"2004-07-21T00:00:00Z","timestamp":1090368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a family in which a healthy, unrelated couple had a male fetus with bilateral ventriculomegaly, a normal liveborn girl, a hydatidiform molar pregnancy, a female fetus with ventriculomegaly and situs abnormalities, and a male fetus with hydrocephalus, a three\u2010lobed left lung, and defective tracheal cilia with absent inner dynein arms and a single centriole. A mutation analysis of <jats:italic>FOXJ1<\/jats:italic> and <jats:italic>POLL<\/jats:italic> in the last fetus with ciliary defect revealed no mutation within their coding regions. The presence of three affected fetuses of both sexes in a family with phenotypically normal parents suggests that the condition was inherited as an autosomal recessive trait. A thorough evaluation of the thoracic and abdominal situs is recommended before counseling a family of a child with hydrocephalus, because the recognition of situs defects may point to the diagnosis of primary ciliary defect and recurrence risk of 25% for siblings. This figure is much higher than the general risk of 1\u20132% for siblings of a patient with isolated hydrocephalus. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30177","type":"journal-article","created":{"date-parts":[[2004,7,21]],"date-time":"2004-07-21T20:10:14Z","timestamp":1090440614000},"page":"308-311","source":"Crossref","is-referenced-by-count":48,"title":["Absent inner dynein arms in a fetus with familial hydrocephalus\u2010situs abnormality"],"prefix":"10.1002","volume":"129A","author":[{"given":"Kenjiro","family":"Kosaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Miyakoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari","family":"Ueno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamoru","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikao","family":"Torikata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasunori","family":"Yoshimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,8,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084576"},{"key":"e_1_2_5_3_1","first-page":"852","article-title":"Genetical and ultrastructural aspects of the immotile\u2010cilia syndrome","volume":"33","author":"Afzelius BA","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.4065\/76.12.1219"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.18.3684"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010715)101:4<339::AID-AJMG1442>3.0.CO;2-P"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00627011"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00427115"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI4786"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000111291"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.5.543"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.5.481"},{"key":"e_1_2_5_13_1","first-page":"162","volume-title":"Practical Genetic Counseling","author":"Harper P","year":"2001"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.6.715"},{"key":"e_1_2_5_15_1","first-page":"468","article-title":"Hydrocephalus in kartagener's syndrome","volume":"65","author":"Jabourian Z","year":"1986","journal-title":"Ear Nose Throat J"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.22.8.2769-2776.2002"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/scdb.1997.0187"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.9.5043"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4587"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81705-5"},{"issue":"1","key":"e_1_2_5_21_1","first-page":"20","article-title":"Immotile cilia syndrome associated with hydrocephalus and precocious puberty: A case report","volume":"3","author":"Picco P","year":"1993","journal-title":"Eur J Pediatr Surg"},{"key":"e_1_2_5_22_1","first-page":"341","article-title":"Ultrastructure of respiratory cilia of wic\u2010hyd male rats. 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