{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:32:42Z","timestamp":1791325962856,"version":"4.3.1"},"reference-count":56,"publisher":"Wiley","issue":"15","license":[{"start":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T00:00:00Z","timestamp":1183075200000},"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]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Meckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)\u2010related disorders (JSRDs) or cerebello\u2010oculo\u2010renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay\/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. A significant clinical overlap between MKS and JSRD\/CORS has been recognized in the literature. We describe a group of 10 Hutterite patients, of which 7 had been previously diagnosed with MKS, with a JSRD. Clinical features include variable early mortality, cognitive handicap, a characteristic dysmorphic facial appearance, hypotonia, ataxia, abnormal breathing pattern, nystagmus, and MTS on MRI. Additional features include occipital encephalocele, posterior fossa fluid collections resembling Dandy\u2013Walker malformation, hydrocephalus, coloboma, and renal disease. This JSRD is a recognizable dysmorphic syndrome characterized by hypertelorism, deep\u2010set eyes, down\u2010slanting palpebral fissures, ptosis, arched eyebrows with medial sparseness, square nasal tip, short philtrum with tented upper lip, open mouth with down\u2010turned corners, and posteriorly rotated low\u2010set ears. Renal disease is present in 70% of patients and is characterized by cystic kidneys, abnormalities in renal function and hypertension. Homozygous deletions of <jats:italic>NPHP1<\/jats:italic> and the known loci for JS\/JSRD and MKS were excluded by identity\u2010by\u2010descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31832","type":"journal-article","created":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T20:46:33Z","timestamp":1183149993000},"page":"1715-1725","source":"Crossref","is-referenced-by-count":23,"title":["Meckel syndrome in the Hutterite population is actually a Joubert\u2010related cerebello\u2010oculo\u2010renal syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Kym M.","family":"Boycott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian S.","family":"Parboosingh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James N.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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