{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T16:57:06Z","timestamp":1761843426605},"reference-count":66,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9284,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A patient was observed with female pseudohermaphroditism (FPH) and the \u201cPrune Belly Syndrome\u201d (PBS) \u2013 abdominal muscle hypoplasia and urinary tract abnormalities \u2013 findings seen in three previously reported cases. A review of cases of FPH with additional anomalies suggests a spectrum of primary, and possibly derived, malformations with Prune Belly Syndrome at one extreme.<\/jats:p><jats:p>These findings can best be understood as disturbance of a specific embryological developmental field of which FPH is a marker, although not an invariable expression. The field includes anorectal, urogenital, sacral\u2010spinal, and ventral wall structures. FPH is a rare manifestation, and the cases reviewed suggest that it can appear as a developmental anomaly without apparent hormonal trigger.<\/jats:p><jats:p>Malformations of this field are understandable on the basis of a multifactorial model, with male sex as a predisposing factor. The caudal defects of the cryptophthalmos syndrome offer a paradigm for a spectrum of field anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.1320060206","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:35:45Z","timestamp":1118511345000},"page":"123-136","source":"Crossref","is-referenced-by-count":33,"title":["Female pseudohermaphroditism and associated anomalies"],"prefix":"10.1002","volume":"6","author":[{"given":"Mark S.","family":"Lubinsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"235","volume-title":"Intersexuality","author":"Overzier C","year":"1963"},{"key":"e_1_2_1_3_2","first-page":"167","volume-title":"Disorders of Sexual Differentiation: Etiology and Clinical Delineation","author":"Simpson JL","year":"1976"},{"key":"e_1_2_1_4_2","series-title":"Birth Defects Original Article Series. VIII\/2, pt XIII","first-page":"88","volume-title":"The syndrome of polydactyly, imperforate anus and vertebral anomalies","author":"Filippi G","year":"1972"},{"key":"e_1_2_1_5_2","first-page":"100","article-title":"Special female hermaphroditism associated with multiple disorders","volume":"39","author":"Park IJ","year":"1972","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_6_2","first-page":"242","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_7_2","series-title":"Birth Defects Original Article Series X\/4, part XVI","first-page":"180","volume-title":"Prune belly syndrome in a female","author":"Engel RME","year":"1974"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80370-1"},{"key":"e_1_2_1_9_2","first-page":"95","volume-title":"Female Sex Anomalies","author":"Dougherty CM","year":"1972"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-4295(74)80103-2"},{"key":"e_1_2_1_11_2","first-page":"1120","volume-title":"Congenital Malformations","author":"Warkany J","year":"1971"},{"key":"e_1_2_1_12_2","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/S0022-5347(17)61111-X","article-title":"Twins with congenital deficiency of abdominal musculature","volume":"107","author":"Peterson DS","year":"1972","journal-title":"J Urol"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80210-3"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80519-8"},{"key":"e_1_2_1_15_2","first-page":"69","article-title":"Therapeutiques hormonales","volume":"20","author":"Serment H","year":"1968","journal-title":"Bull Fed Soc Gynecol Obstet Lang Fr"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(59)90168-1"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80131-2"},{"key":"e_1_2_1_18_2","first-page":"176","volume-title":"Human Intersex","author":"Ashley DJB","year":"1962"},{"key":"e_1_2_1_19_2","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1093\/ajcp\/21.8.752","article-title":"Renal agenesis. Report of a case","volume":"21","author":"Leffler RJ","year":"1951","journal-title":"Am J Clin Pathol"},{"key":"e_1_2_1_20_2","first-page":"23","article-title":"A case of female hermaphroditism with associated congenital defects. Review of some aetiologic problems","volume":"39","author":"Borgor GMB","year":"1965","journal-title":"S Afr Med J"},{"key":"e_1_2_1_21_2","first-page":"280","volume-title":"Biologie und Pathologie des Weibes","author":"Kermauner F","year":"1924"},{"key":"e_1_2_1_22_2","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1542\/peds.22.3.472","article-title":"Cloaca with non\u2010adrenal female pseudohermaphroditism","volume":"22","author":"Sieber WK","year":"1958","journal-title":"Pediatrics"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(62)90267-2"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.4959.149"},{"key":"e_1_2_1_25_2","first-page":"571","article-title":"Bicornuate uterus; atresia of the vulva with double vagina; pseudohermaphroditism","volume":"14","author":"Atkinson W","year":"1934","journal-title":"Surg Clin North AM"},{"key":"e_1_2_1_26_2","first-page":"9","article-title":"Phallic urethra in female pseudohermaphroditism","volume":"95","author":"Reilly WA","year":"1958","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_27_2","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/S0002-9378(16)40328-5","article-title":"Case of pseudohermaphroditismus femininus externus with uterus didelphys, imperforate anus and vagina","volume":"47","author":"Siegel I","year":"1944","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_28_2","first-page":"13","article-title":"Gynandro\u00efde \u00e0 appareil urinaire masculin avec m\u00e9gavagin","volume":"45","author":"Trillat MM","year":"1946","journal-title":"Gynecol Obstet"},{"key":"e_1_2_1_29_2","first-page":"99","article-title":"Pseudoermafroditismo in neonata con malformazioni dei genitali interni ed atresia anali","volume":"16","author":"Cantaboni A","year":"1966","journal-title":"Fol Hered Pat"},{"key":"e_1_2_1_30_2","first-page":"1","article-title":"Nonspecific pseudohermaphroditism: report of two cases with cytogenetic investigations","volume":"19","author":"Ferrier P","year":"1964","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_31_2","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1542\/peds.26.1.151","article-title":"Genital abnormalities in infants associated with the administration of progesterone to their mothers","volume":"26","author":"Liebow SG","year":"1960","journal-title":"Pediatrics"},{"key":"e_1_2_1_32_2","first-page":"373","article-title":"Eine seltene Missbildung des Urogenital system","volume":"55","author":"Ihl O","year":"1905","journal-title":"Z Geburtsh Gyn"},{"issue":"2","key":"e_1_2_1_33_2","first-page":"230","article-title":"Eine seltene Missbildung","volume":"32","author":"Zebel J","year":"1882","journal-title":"Z Geburtsh Gyn"},{"key":"e_1_2_1_34_2","first-page":"490","article-title":"Female pseudohermaphroditism and renal anomalies","volume":"105","author":"Franks RC","year":"1963","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)68503-3"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(54)80260-5"},{"key":"e_1_2_1_37_2","first-page":"101","article-title":"Eine sagittale Verdoppelung der weiblichen Harnr\u00f6hre","volume":"10","author":"Grubenmann I","year":"1912","journal-title":"Frank Zschr Path"},{"key":"e_1_2_1_38_2","first-page":"272","volume-title":"Hermaphroditism, Genital Anomalies and Related Endocrine Disorders","author":"Jones HW","year":"1958"},{"key":"e_1_2_1_39_2","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/S0022-5347(17)66504-2","article-title":"The urogenital sinus: its demonstration and significance","volume":"78","author":"Paquin AJ","year":"1957","journal-title":"J Urol"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-13-7-783"},{"key":"e_1_2_1_41_2","first-page":"173","article-title":"Un caso atipico de sindrome de Rokitansky","volume":"21","author":"Fernandez ME","year":"1970","journal-title":"Acta Ginecol"},{"key":"e_1_2_1_42_2","first-page":"288","volume-title":"Biochemistry and Morphogenesis","author":"Needham J","year":"1942"},{"key":"e_1_2_1_43_2","first-page":"71","volume-title":"Advances in Human Genetics","author":"Opitz JM","year":"1979"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.40.030178.001431"},{"key":"e_1_2_1_45_2","volume-title":"Morphogenese Pathologique","author":"Duhamel B","year":"1966"},{"key":"e_1_2_1_46_2","series-title":"Birth Defects Original Article Series X\/4, Part XVI","first-page":"146","volume-title":"Exstrophy of the bladder and associated anomalies","author":"Engel RME","year":"1974"},{"key":"e_1_2_1_47_2","series-title":"Birth Defects Original Article Series XIV(6B)","first-page":"253","volume-title":"The OEIS Complex (Omphalocele, Exstrophy, Imperforate Anus, Spinal Defects)","author":"Carey JC","year":"1978"},{"key":"e_1_2_1_48_2","first-page":"375","article-title":"Genito\u2010urinary malformations and vertebral anomalies in ano\u2010rectal malformations","volume":"4","author":"Pellerin D","journal-title":"Z Kinderchir"},{"key":"e_1_2_1_49_2","first-page":"86","volume-title":"Normal and Abnormal Development of the Kidney","author":"Potter EL","year":"1972"},{"key":"e_1_2_1_50_2","first-page":"161","volume-title":"Ano\u2010rectal Malformations in Children","author":"Stephens FD","year":"1971"},{"key":"e_1_2_1_51_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440537"},{"key":"e_1_2_1_52_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-87399-7_4"},{"key":"e_1_2_1_53_2","series-title":"Birth Defects Original Article Series X\/4, Part XVII","first-page":"127","volume-title":"The abdominal muscle deficiency tried syndrome \u2010 experience with ten cases","author":"Ives EJ","year":"1974"},{"key":"e_1_2_1_54_2","first-page":"75","volume-title":"Handbook of Teratology","author":"Fraser FC","year":"1977"},{"key":"e_1_2_1_55_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.239.3.217"},{"key":"e_1_2_1_56_2","first-page":"970","article-title":"Sex liability to single structural defects","volume":"132","author":"Arena JFP","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_57_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020204"},{"key":"e_1_2_1_58_2","first-page":"363","article-title":"Pseudohermaphroditism: A clinical problem","volume":"2","author":"Evans TN","year":"1953","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_59_2","series-title":"Birth Defects Original Article Series XIII\/2","first-page":"137","volume-title":"Intersexes \u2010 Surgical correction","author":"Jones HW","year":"1977"},{"key":"e_1_2_1_60_2","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/S0022-5347(17)66417-6","article-title":"Female pseudohermaphroditism: A case presenting unusual problems","volume":"78","author":"Glen JE","year":"1957","journal-title":"J Urol"},{"key":"e_1_2_1_61_2","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1017\/S1120962300012294","article-title":"Syndrome malformatif avec cryptophthalmie","volume":"18","author":"Francois J","year":"1969","journal-title":"Acta Genet Med Gemellol"},{"key":"e_1_2_1_62_2","series-title":"Birth Defects Original Article Series X\/4, Part XVI","first-page":"142","volume-title":"Incidence of abnormalities of the kidney and ureter in congenital scoliosis","author":"Cowell HR","year":"1974"},{"key":"e_1_2_1_63_2","first-page":"159","article-title":"Size of pelvic bony outlet in renal agenesis","volume":"121","author":"Fellows RA","year":"1974","journal-title":"Am J Radiol"},{"key":"e_1_2_1_64_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80404-4"},{"key":"e_1_2_1_65_2","unstructured":"SmithDW: \u201cRecognizable Patterns of Human Malformation \u201d 2nd Ed. Philadelphia:1976 p382."},{"key":"e_1_2_1_66_2","first-page":"48","article-title":"Congenital absence of the vagina","volume":"9","author":"Miller NF","year":"1957","journal-title":"Obstet Gynecol NY"},{"key":"e_1_2_1_67_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80278-4"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320060206","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320060206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:16:17Z","timestamp":1699834577000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320060206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,1]]},"references-count":66,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,1]]}},"alternative-id":["10.1002\/ajmg.1320060206"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320060206","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,1]]}}}