{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T10:09:53Z","timestamp":1786702193562,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3493,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,10,23]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary\/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo\u2010esophageal fistula\/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3\/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well\u2010documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retarardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%).<\/jats:p><jats:p>PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590115","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:09:09Z","timestamp":1118513349000},"page":"68-75","source":"Crossref","is-referenced-by-count":43,"title":["Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature"],"prefix":"10.1002","volume":"59","author":[{"given":"Saroj K.","family":"Parida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan D.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorayne","family":"Barton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)65498-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441889"},{"key":"e_1_2_1_4_1","first-page":"514","article-title":"An unusual arrangement of the external genitalia","volume":"13","author":"Appelby LH","year":"1923","journal-title":"Canad Med Assoc J"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.18004821021"},{"key":"e_1_2_1_6_1","first-page":"1716","volume-title":"Urology","author":"Campbell MF","year":"1963"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S0022-5347(17)66243-8","article-title":"Transposition of external genitalia in a case with Fanconi type deformity","volume":"79","author":"Chappel BS","year":"1958","journal-title":"J Urol"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(85)90048-2"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)61620-3"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)65153-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1956.tb04764.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090760307"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1971.tb12052.x"},{"key":"e_1_2_1_14_1","first-page":"353","volume-title":"The Surgery of Infancy and Childhood\u2014Prin\u2010ciple and Techniques","author":"Gross RE","year":"1953"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)67814-5"},{"key":"e_1_2_1_16_1","first-page":"1071","volume-title":"Principles and Practice of Urology","author":"Hinman F","year":"1935"},{"key":"e_1_2_1_17_1","first-page":"344","article-title":"Una rara deformidad congenita del aparato genital","volume":"24","author":"Hontan ES","year":"1935","journal-title":"La Pediatria Espanola"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)68469-6"},{"key":"e_1_2_1_19_1","first-page":"236","article-title":"Transposition of the penis and scrotum","volume":"7","author":"Kapur S","year":"1968","journal-title":"Ind Pediatrics"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)43156-9"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420410302"},{"key":"e_1_2_1_22_1","first-page":"2299","article-title":"Transposition of the penis and scrotum in multiple developmental abnormalities","volume":"115","author":"Leb J","year":"1974","journal-title":"Orv Hetil"},{"key":"e_1_2_1_23_1","first-page":"516","article-title":"Transposition of the scrotum and penis\u2014case report","volume":"30","author":"Majumdar P","year":"1968","journal-title":"Ind J Surg"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1016\/S0022-5347(17)67437-8","article-title":"Transposition of the penis and scrotum: Case report","volume":"73","author":"McLlvoy DB","year":"1955","journal-title":"J Urol"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490120"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1090790206"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)60878-4"},{"key":"e_1_2_1_28_1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.5980\/jpnjurol1928.57.3_305","article-title":"Case of the transposition of the penis and scrotum","volume":"57","author":"Nagata M","year":"1966","journal-title":"Jap J Urol"},{"key":"e_1_2_1_29_1","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1159\/000473229","article-title":"Prepenile scrotum","volume":"7","author":"Paramo PG","year":"1981","journal-title":"Eur Urol"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430624"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)63497-9"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)57649-1"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440103"},{"key":"e_1_2_1_34_1","first-page":"67","volume-title":"Contributions to Embryology","author":"Spaulding MH","year":"1921"},{"key":"e_1_2_1_35_1","first-page":"83","article-title":"VACTERR association and genital abnormalities","volume":"11","author":"Weyerts LK","year":"1992","journal-title":"Proc Greenwood Genet Ctr"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)63682-6"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:41:13Z","timestamp":1698302473000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,10,23]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,10,23]]}},"alternative-id":["10.1002\/ajmg.1320590115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590115","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,10,23]]}}}