{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:23:39Z","timestamp":1790043819782,"version":"4.0.1"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,4,14]],"date-time":"2003-04-14T00:00:00Z","timestamp":1050278400000},"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":[[2003,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients have neurological signs. Signs of Gaucher disease appear after a symptom\u2010free period, except in rare cases with fetal onset. The description of such cases was based mainly on single reports and siblings. We report here a series of perinatal\u2010lethal Gaucher disease cases highlighting the specificity of this phenotype. We retrospectively studied eight original cases of proven Gaucher disease with fetal onset. Non\u2010immune hydrops fetalis was present in all cases but one, and associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphy. The similarities between our cases and 33 previously described cases allow us to better delineate the perinatal\u2010lethal Gaucher disease phenotype. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurological involvement begins in the first week and leads to death within three months. Hepatosplenomegaly is a major sign, and associated with ichthyosis, arthrogryposis, and facial dysmorphy in some 35\u201343% of cases. Perinatal\u2010lethal Gaucher disease is a specific entity defined by its particular course and signs that are absent in classical type 2 Gaucher disease. Our study provides clues to the diagnosis of this likely underdiagnosed condition, which must be biochemically confirmed in order to propose appropriate genetic counselling. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20117","type":"journal-article","created":{"date-parts":[[2003,6,27]],"date-time":"2003-06-27T10:01:11Z","timestamp":1056708071000},"page":"338-344","source":"Crossref","is-referenced-by-count":111,"title":["Perinatal\u2010lethal Gaucher disease"],"prefix":"10.1002","volume":"120A","author":[{"given":"C.","family":"Mignot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gelot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Bessi\u00e8res","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Daffos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Voyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Menez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Fallet Bianco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Le Duff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Loget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fargier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Costil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Josset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Roume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MT.","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Maire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Billette de Villemeur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,4,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1998.tb01952.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-1-4831-9648-0.50011-0"},{"key":"e_1_2_6_4_1","first-page":"3635","volume-title":"The metabolic basis of inherited disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_6_5_1","first-page":"227","article-title":"Lysosomal storage diseases presenting as transient or persistent hydrops fetalis","volume":"2","author":"Bonduelle M","year":"1991","journal-title":"Genet Couns"},{"key":"e_1_2_6_6_1","first-page":"277","article-title":"Diagnostic des maladies de surcharge lysosomiale \u00e0 r\u00e9v\u00e9lation f\u0153tale","volume":"17","author":"Bouvier R","year":"1997","journal-title":"Ann Pathol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100240050023"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1542\/peds.45.6.1017","article-title":"The infantile form of Gaucher disease in an infant of Jewish Sephardi origin","volume":"45","author":"Drukker A","year":"1970","journal-title":"Pediatrics"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<222::AID-AJMG13>3.0.CO;2-#"},{"key":"e_1_2_6_10_1","first-page":"730","volume-title":"The metabolic basis of inherited diseases","author":"Frederickson DS","year":"1973"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590315"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80997-X"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80441-X"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199910)19:10<930::AID-PD664>3.0.CO;2-X"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00548655"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117160"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072120"},{"key":"e_1_2_6_18_1","first-page":"568","article-title":"Nonimmune hydrops fetalis associated with genetic abnormalities","volume":"75","author":"Jauniaux E","year":"1990","journal-title":"Obstet Gynecol"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100142483"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.4.539"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000243754"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.66.5.667-a"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.7.854"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340313"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200008000-00018"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2675"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199708)17:8<765::AID-PD122>3.0.CO;2-3"},{"key":"e_1_2_6_28_1","first-page":"3371","volume-title":"The metabolic basis of inherited disease","author":"Sandhoff K","year":"2001"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200004)20:4<340::AID-PD795>3.0.CO;2-N"},{"key":"e_1_2_6_30_1","first-page":"842","article-title":"Congenital ichtyosis with restrictive dermopathy and Gaucher disease: A new syndrome with associated prenatal diagnostic and pathology findings","volume":"81","author":"Sherer DM","year":"1993","journal-title":"Obstet Gynecol"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199210000-00023"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.2.132"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1053\/plac.1999.0483"},{"key":"e_1_2_6_34_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S0065-3101(24)00037-9","article-title":"Hydrops fetalis: Lysosomal storage disorders in extremis","volume":"46","author":"Stone DL","year":"1999","journal-title":"Adv Pediatr"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200315"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.82.2.F163"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmmb.1994.1052"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0344-0338(84)80069-2"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00661.x"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199805000-00003"}],"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.20117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T05:03:22Z","timestamp":1704863002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4,14]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,7,30]]}},"alternative-id":["10.1002\/ajmg.a.20117"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20117","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4,14]]}}}