{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T19:54:16Z","timestamp":1777924456996,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,10,21]],"date-time":"2003-10-21T00:00:00Z","timestamp":1066694400000},"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":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of a girl with clinical features of Peters' Plus Syndrome (PPS) (association of anterior eye chamber defects; peculiar facies; cleft lip\/palate; brachymelia; developmental delay; growth retardation) and documented growth hormone deficiency (height \u22123.5 SDS at chronological age 5 years 8 months; low growth factors; bone age delay; growth velocity 4.4 cm\/year (&lt;3rd centile); and peak growth hormone levels of 1.7 and 4.7 ng\/ml by clonidine and insulin provocative testing, respectively). Treatment with recombinant human growth hormone (0.3 mg\/kg\/week) resulted in a dramatic increase in growth velocity, increasing the height from \u22123.5 to \u22121.5 SDS over 2.3 years of therapy, indicative of an excellent response. Growth retardation is a known association in PPS: a condition that includes other midline facial defects. This case supports a role for GHD in the pathogenesis of the short stature observed in these children; demonstrates the efficacy of GH treatment; and further reinforces the relationship of pituitary anomalies with common congenital defects. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20400","type":"journal-article","created":{"date-parts":[[2004,1,16]],"date-time":"2004-01-16T09:00:32Z","timestamp":1074243632000},"page":"388-391","source":"Crossref","is-referenced-by-count":3,"title":["Growth hormone deficiency (GHD): A new association in Peters' plus syndrome (PPS)"],"prefix":"10.1002","volume":"124A","author":[{"given":"Kuk\u2010Wha","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip D. K.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.192"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.3.5830.811"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.277"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199310000-00003"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1998.69"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.1.90"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540070083022"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1020945406356"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1136\/jmg.36.2.152","article-title":"A mutation in the RIEG1 gene associated with Peters' anomaly","volume":"36","author":"Doward W","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_11_1","first-page":"263","article-title":"Holoprosencephaly and septo\u2010optic dysplasia","volume":"4","author":"Fitz CR","year":"1994","journal-title":"Neuroimaging Clin N Am"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400107"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819609057113"},{"key":"e_1_2_5_14_1","first-page":"283","article-title":"The Peters'\u2010Plus syndrome: Description of 16 patients and review of the literature","volume":"2","author":"Hennekam RC","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440534"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288402301105"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<346::AID-AJMG7>3.0.CO;2-1"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(02)01120-6"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819209087613"},{"key":"e_1_2_5_20_1","first-page":"27","article-title":"Uber angeborene Defektbildung des Descemet' schen Membran","volume":"44","author":"Peters A","year":"1906","journal-title":"Klin Mbl Augenheilk"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.257.5073.1118"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.257.5073.1115"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.5.1532"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81141-X"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199310000-00002"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818409006113"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01953934"},{"key":"e_1_2_5_29_1","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/BF00339771","article-title":"Computed tomographic findings in septo\u2010optic dysplasia: Discordance between clinical and radiological findings","volume":"26","author":"Wilson DM","year":"1984","journal-title":"Neuroradiology"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.5.332"}],"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.20400","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20400","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T08:21:52Z","timestamp":1697444512000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20400"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,21]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/ajmg.a.20400"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20400","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,21]]}}}