{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T17:13:42Z","timestamp":1762017222318},"reference-count":13,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T00:00:00Z","timestamp":1185753600000},"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":[[2007,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on four siblings (three males, one female) born to first cousin Arab parents with the constellation of distal renal tubular acidosis (RTA), small kidneys, nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial features. They presented with early developmental delay with subsequent severe mental, behavioral and social impairment and autistic\u2010like features. Their facial features are unique with prominent cheeks, well\u2010defined philtrum, large bulbous nose, V\u2010shaped upper lip border, full lower lip, open mouth with protruded tongue, and pits on the ear lobule. All had proteinuria, hypercalciuria, hypercalcemia, and normal anion\u2010gap metabolic acidosis. Renal ultrasound examinations revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. Additional findings included dilated ventricles and cerebral demyelination on brain imaging studies. Other than distal RTA, common causes of nephrocalcinosis were excluded. The constellation of features in this family currently likely represents a possibly new autosomal recessive syndrome providing further evidence of heterogeneity of nephrocalcinosis syndromes. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31898","type":"journal-article","created":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T23:46:30Z","timestamp":1185839190000},"page":"1951-1957","source":"Crossref","is-referenced-by-count":9,"title":["Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: A possible new autosomal recessive syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Eissa","family":"Faqeih","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samhar I.","family":"Al\u2010Akash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Sakati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prof. Ahmad S.","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,7,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)30481-0"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1297-319X(00)00207-4"},{"key":"e_1_2_5_4_1","first-page":"933","volume-title":"Pediatric Nephrology","author":"Barratt TM","year":"1999"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119243"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2004.06.030"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.82"},{"key":"e_1_2_5_8_1","first-page":"2005","volume-title":"Pediatric Kidney Disease","author":"Langman CB","year":"1992"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/379445a0"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460306"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050065"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1990.49"},{"key":"e_1_2_5_13_1","first-page":"1375","volume-title":"Oxford Textbook of Clinical Nephrology","author":"Wrong O","year":"1998"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e121"}],"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.31898","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31898","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T17:29:21Z","timestamp":1699982961000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,30]]},"references-count":13,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["10.1002\/ajmg.a.31898"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31898","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,30]]}}}