{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T15:22:57Z","timestamp":1781623377088,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,12,5]],"date-time":"2020-12-05T00:00:00Z","timestamp":1607126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Robinow syndrome (RS) is a rare, pleiotropic genetic disorder. While it has been reported that males with Robinow syndrome may have genitourinary atypicalities, these have not been systematically studied. We hypothesized that the underlying gene involved plays a role in the clinical variability of associated genital findings and that the phenotypic appearance of the genitalia in RS may have a psychological impact. Urologic\u2010specific examination consisted of detailed examination and a questionnaire to investigate the psychological impact of the genital phenotype. Nine males agreed to a full evaluation. Average age was 19.9\u2009years, penile length was 32.5\u2009mm, stretched length 53\u2009mm, and width 24.4\u2009mm. Penile transposition occurred in all 9 male who allowed full examination. Undescended testicles were noted in 4\/10, testicular atrophy in 5\/9, buried penis in 7\/9, hypospadias in 5\/8, and a large penopubic gap (space between dorsum of penis base and pubic bone) in 5\/6. In this cohort, 78% answered our semi\u2010quantitative pilot questionnaire that identified diminished sexuality, sexual function, and self\u2010perception. In conclusion, RS has unique, hallmark genital findings including penile transposition, buried penis, undescended testes, and large penopubic gaps. Genital phenotype in males was not shown to correlate with the specific gene involved for each patient. Surgical approaches and other interventions should be studied to address the findings of decreased sexuality and self\u2010perception. It is the authors' opinion that intervention to provide the appearance of penile lengthening be postponed until puberty to allow for maximal natural phallic growth.<\/jats:p>","DOI":"10.1002\/ajmg.a.61981","type":"journal-article","created":{"date-parts":[[2020,12,5]],"date-time":"2020-12-05T09:16:21Z","timestamp":1607159781000},"page":"3601-3605","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impact"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6297-8344","authenticated-orcid":false,"given":"Jonathan A.","family":"Gerber","sequence":"first","affiliation":[{"name":"Division of Urology, Department of Surgery The University of Texas Medical Branch at Galveston  Galveston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunj R.","family":"Sheth","sequence":"additional","affiliation":[{"name":"Department of Urology Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3654-9524","authenticated-orcid":false,"given":"Paul F.","family":"Austin","sequence":"additional","affiliation":[{"name":"Division of Pediatric Urology, Department of Surgery Texas Children's Hospital  Houston Texas USA"},{"name":"Scott Department of Urology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80247-5"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.010"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02773.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.4274\/Jcrpe.1135"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31592"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.5.305"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22156"},{"issue":"6","key":"e_1_2_9_10_1","first-page":"645","article-title":"A newly recognized dwarfing syndrome","volume":"117","author":"Robinow M.","year":"1969","journal-title":"American Journal of Diseases of Children"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.015"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.10.002"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.005"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)64772-4"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61908"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61981","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61981","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T10:19:12Z","timestamp":1692958752000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,5]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/ajmg.a.61981"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61981","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,5]]},"assertion":[{"value":"2020-04-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}