{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T08:43:17Z","timestamp":1753519397362},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,3,23]],"date-time":"2004-03-23T00:00:00Z","timestamp":1080000000000},"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":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Stratton and Parker [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib4\">1989<\/jats:ext-link>] described a 17\u2010month\u2010old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A similar case was later reported by Gabrielli et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib3\">1994<\/jats:ext-link>], who suggested the existence of a \u201cStratton\u2013Parker syndrome.\u201d Here, we describe a boy with isolated GH deficiency, body asymmetry, and brachycamptodactyly. At birth, complete anorectal agenesis and cryptorchidism were detected, which required surgical treatment. Radiographic examination showed the presence of bilateral proximal radioulnar subluxation and Kirner anomaly. Brain MRI showed asymmetry of the posterior horns of the lateral ventricles and enlarged cisterna magna. Psychomotor development had been mildly delayed during the first years of life. Due to the unique association of GH deficiency with intestinal, genital, and limbs abnormalities, we believe that our patient may represent a further case of Stratton\u2013Parker syndrome. All patients reported, till date, are sporadic males born to healthy nonconsanguineous parents. X\u2010linked recessive inheritance is a possibility to consider. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30037","type":"journal-article","created":{"date-parts":[[2004,4,15]],"date-time":"2004-04-15T19:04:47Z","timestamp":1082055887000},"page":"57-59","source":"Crossref","is-referenced-by-count":6,"title":["Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton\u2013Parker syndrome"],"prefix":"10.1002","volume":"128A","author":[{"given":"Emanuela","family":"Spadoni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Castelnovi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Maraschio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Stacul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampiero","family":"Beluffi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Bozzola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,3,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370116"},{"key":"e_1_2_4_3_1","first-page":"367","article-title":"Nanisme \u00e0 membres courts, dysmorphisme, dysplasie r\u00e9nale, d\u00e9ficience en hormone de croissance avec hypoplasie pituitaire et retard psychomoteur: Un nouveau syndrome?","volume":"37","author":"Elmer C","year":"1989","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490318"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320205"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30037","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T15:13:35Z","timestamp":1697642015000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,23]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["10.1002\/ajmg.a.30037"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30037","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,23]]}}}