title: Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?
abstract: We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.
authors.forename: A S
authors.initials: AS
authors.lastname: Teebi
authors.forename: H A
authors.initials: HA
authors.lastname: Druker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D002658:Developmental Disabilities / Q000235:genetics; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008297:Male; D009558:Nipples / Q000002:abnormalities; D017689:Polydactyly / Q000235:genetics; D012590:Sclera / Q000002:abnormalities; D012868:Skin Abnormalities / Q000235:genetics; D012886:Skull / Q000002:abnormalities; D013577:Syndrome