{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T05:30:25Z","timestamp":1778304625727,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3706,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a macrosomic newborn girl with albinism, a black lock at the right temporo\u2010occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory\u2010evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy showed aganglionosis of the large intestine, and total absence of neurocytes and nerve fibers in the small intestine, indicating a total lack of sympathetic and parasympathetic innervation. The infant died of intestinal dysfunction at 5 weeks. She was the 14th child of consanguineous Kurdish parents. Four sibs of our patient had the same syndrome and died a few days after birth. The other 9 sibs are well, with an unremarkable phenotype. A syndrome of albinism, black lock, deafness, and a total lack of intestinal neural innervation has not yet been reported. It represents a new neural crest syndrome with autosomal\u2010recessive inheritance. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560322","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:00:26Z","timestamp":1118512826000},"page":"322-326","source":"Crossref","is-referenced-by-count":25,"title":["Autosomal\u2010recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome"],"prefix":"10.1002","volume":"56","author":[{"given":"Anja","family":"Gross","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf F.","family":"Maier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela","family":"Stoltenburg\u2010Didinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Grimmer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Obladen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.46.250.868"},{"key":"e_1_2_1_3_1","first-page":"199","article-title":"Percentilenkurven f\u00fcr die L\u00e4ngen\u2010 und Gewichtsbeurteilung t\u00fcrkischer Kinder","volume":"11","author":"Aksu F","year":"1980","journal-title":"Kinderarztl"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350119"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003446-198207000-00004"},{"key":"e_1_2_1_6_1","first-page":"664","article-title":"Aganglionosis of the intestine in siblings","volume":"53","author":"Herman RE","year":"1963","journal-title":"Surgery"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a107457"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199402243300803"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300412"},{"key":"e_1_2_1_10_1","first-page":"2350","article-title":"Smal bowel transplantation in seven children: preservation technique","volume":"23","author":"Revillon Y","year":"1991","journal-title":"Transplant Proc"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/361072a0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-199202010-00020"},{"key":"e_1_2_1_13_1","first-page":"1230","article-title":"Extreme short bowel syndrome in neonates: an indication for small bowel transplantation?","volume":"24","author":"Wallander J","year":"1992","journal-title":"Transplant Proc"},{"key":"e_1_2_1_14_1","first-page":"331","article-title":"Depigmentations of the general and oral tissues and their genetic foundation","volume":"16","author":"Witkop CJ","year":"1979","journal-title":"Ala J Med Sci"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0738-081X(89)90059-X"},{"key":"e_1_2_1_16_1","first-page":"40","article-title":"Functional intestine obstruction on a congenital neurogenic basis in infancy","volume":"75","author":"Zuelzer WW","year":"1948","journal-title":"Am J Dis Child"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320560322","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320560322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T02:17:44Z","timestamp":1698286664000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320560322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,4,15]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,4,15]]}},"alternative-id":["10.1002\/ajmg.1320560322"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320560322","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,4,15]]}}}