{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T15:47:47Z","timestamp":1703087267116},"reference-count":13,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2007,7,6]],"date-time":"2007-07-06T00:00:00Z","timestamp":1183680000000},"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":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 3\u2010year\u2010old male, born at 34 weeks of gestation, with marked pre\u2010 and postnatal overgrowth, birth weight of 6,600 g, length of 61 cm, and head circumference of 38.5 cm. A striking phenotype was recorded at birth, which became more evident during the follow\u2010up period. He had macrobrachycephaly, facial abnormalities, small thoracic cage, long trunk, deformed spine, rhizomelia, large hands and feets, absent subcutaneous fat, small umbilical hernia, inguinal hernias, and large joints with mild contractures. Hypoglycemic episodes and obstructive apnea complicated the neonatal period. During follow\u2010up, overgrowth continued with a height of 146 cm (+11.65 SDS) and a weight of 39 kg (BMI 18.3 kg\/m<jats:sup>2<\/jats:sup>) at 3.5 years. Endocrinological work\u2010up disclosed extremely low levels of growth hormone, insulin\u2010like growth factors, and insulin. What makes our patient unique is the association of marked prenatal overgrowth; unusual phenotype; skeletal dysplasia caused by accelerated endochondral ossification resulting in cartilage hyperplasia of the skull base and spine, and postnatal gigantism; and complete absence of subcutaneous fat. Other well\u2010known overgrowth syndromes were excluded. We hypothesize that autocrine\/paracrine growth factors could be the cause of excessive endochondral ossification. Alternately, activating mutations in transcription factors involved in both growth and endocrine\/metabolic homeostasis could be responsible for this unusual phenotype. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31839","type":"journal-article","created":{"date-parts":[[2007,7,6]],"date-time":"2007-07-06T20:21:04Z","timestamp":1183753264000},"page":"1868-1875","source":"Crossref","is-referenced-by-count":5,"title":["Endochondral gigantism: A newly recognized skeletal dysplasia with pre\u2010 and postnatal overgrowth and endocrine abnormalities"],"prefix":"10.1002","volume":"143A","author":[{"given":"Heinrich","family":"Schmidt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgit","family":"Kammer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Grasser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika","family":"Enders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imma","family":"Rost","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wieland","family":"Kiess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,7,6]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"432","article-title":"Tables for predicting adult height from skeletal age: Revised for use with Greulich\u2010Pyle hand standards","volume":"40","author":"Bayley N","year":"1952","journal-title":"Pediatrics"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31368"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471227579"},{"key":"e_1_2_6_5_1","first-page":"646","article-title":"Weaver's syndrome\u2010primordial excessive growth velocity: A case report","volume":"67","author":"Dawood AA","year":"1985","journal-title":"S Afr Med J"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/345647"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30061"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.22.1.0419"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2005.088716"},{"key":"e_1_2_6_10_1","volume-title":"Bone Disease of Children","author":"Maroteaux P","year":"1979"},{"key":"e_1_2_6_11_1","first-page":"1","article-title":"Physical growth of Swiss children from birth to 20 years of age: First Z\u00fcrich longitudinal study of growth and development","volume":"52","author":"Prader A","year":"1988","journal-title":"Helv Paed Acta Suppl"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30655"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201050"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112123252403"}],"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.31839","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31839","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:43:08Z","timestamp":1697593388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31839"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,6]]},"references-count":13,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2007,8,15]]}},"alternative-id":["10.1002\/ajmg.a.31839"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31839","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,6]]}}}