{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:33:46Z","timestamp":1762004026817},"reference-count":42,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T00:00:00Z","timestamp":1189555200000},"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":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (acid\u2010\u03b1\u2010glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile\u2010onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late\u2010onset disease with a much more variable age at onset and disease course. Sibling phenotype discordance has been reported for late\u2010onset Pompe disease, but has not been studied in classical infantile disease. We reviewed the medical literature for affected sibships in which at least one sibling had clinical and pathology or biochemical findings consistent with infantile Pompe disease including symptoms beginning in infancy, early hypotonia, cardiomegaly documented by 6 months of age, and early death. The age at symptom onset, age at death, and clinical course were compared between probands and affected siblings. Our results showed that since 1931, publications document 13 families with 31 affected infants (11 probands; 20 affected siblings). The median age at symptom onset for all affected infants was 3 months (range 0\u20136 months) with significant correlation (R\u2009=\u20090.60, <jats:italic>P<\/jats:italic>\u2009=\u20090.04) between probands and affected siblings. The median age at death for all affected infants was 6 months (range 1.5\u201313 months); probands were slightly older at death than their siblings. The median length of disease course for all affected infants was 3 months (0\u201310 months) and was slightly longer for probands. Unlike late\u2010onset Pompe disease, there appears to be minimal phenotypic and lifespan variation among siblings with infantile Pompe disease. This prognostic information is vital for families with affected infants and allows for appropriate genetic counseling. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31936","type":"journal-article","created":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T21:47:23Z","timestamp":1189633643000},"page":"2493-2501","source":"Crossref","is-referenced-by-count":15,"title":["Sibling phenotype concordance in classical infantile Pompe disease"],"prefix":"10.1002","volume":"143A","author":[{"given":"Wendy E.","family":"Smith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Sullivan\u2010Saarela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer S.","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerald F.","family":"Cox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deyanira","family":"Corzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan\u2010Tsong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,9,12]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"146","article-title":"Pompe's disease in identical twins","volume":"21","author":"Agarwala BN","year":"1986","journal-title":"Hosp Pract (Off Ed)"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(84)90466-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.16.8861"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00008"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200367"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880160614"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.3.415"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(50)80174-9"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1959.tb44172.x"},{"key":"e_1_2_6_11_1","first-page":"402","article-title":"Glycogen storage disease of the heart. 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