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LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor <jats:italic>FOXC2<\/jats:italic> are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re\u2010implantation, mild intellectual impairment and apparent glomuvenous malformations (GVM). Distichiasis was present in three generations of the proband's maternal side of the family. The GVMs were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A <jats:italic>GLMN<\/jats:italic> (glomulin) gene mutation was identified in the proband that accounts for the observed GVMs; no other family member could be tested. <jats:italic>TIE2<\/jats:italic> sequencing revealed no mutations. In the proband, an additional submicroscopic 265\u2009kb contiguous gene deletion was identified in 16q24.3, located 609\u2009kb distal to the <jats:italic>FOXC2<\/jats:italic> locus, which was inherited from the proband's mother. The deletion includes the <jats:italic>C16ORF95<\/jats:italic>, <jats:italic>FBXO31<\/jats:italic>, <jats:italic>MAP1LC3B<\/jats:italic>, and <jats:italic>ZCCHC14<\/jats:italic> loci and 115\u2009kb of a gene desert distal to <jats:italic>FOXC2<\/jats:italic> and <jats:italic>FOXL1<\/jats:italic>. Thus, it is likely that the microcephaly, distichiasis, vesicoureteral, and intellectual impairment in this family may be caused by the deletion of one or more of these genes and\/or deletion of distant <jats:italic>cis<\/jats:italic>\u2010regulatory elements of <jats:italic>FOXC2<\/jats:italic> expression. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35229","type":"journal-article","created":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T21:27:19Z","timestamp":1331328439000},"page":"839-849","source":"Crossref","is-referenced-by-count":23,"title":["Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a <i>Glomulin<\/i> mutation"],"prefix":"10.1002","volume":"158A","author":[{"given":"Matthew G.","family":"Butler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan 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