title: Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome.
abstract: We report a female newborn with Johanson-Blizzard syndrome associated with extreme intrauterine growth retardation, aged facial appearance, and atrial septal defect. Other features are microcephaly, prominent veins over the scalp, alopecia over the vertex, wide-open fontanelle, high forehead, antimongoloid slant, edematous eyelids, the absence of eyebrows and eyelashes, beaked nose with alae nasi, low-set ears, thin lips, and micrognathia. Investigations revealed deafness and congenital hypothyroidism. We believe that this association of severe intrauterine growth retardation and congenital heart disease represents the components of this syndrome.
authors.affiliation: Department of Neonatology, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Alpay
authors.forename: D
authors.initials: D
authors.lastname: Gül
authors.forename: M K
authors.initials: MK
authors.lastname: Lenk
authors.forename: G
authors.initials: G
authors.lastname: Oğur
mesh_terms: D003409:Congenital Hypothyroidism; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation; D006312:Hearing Loss, Bilateral / Q000151:congenital; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome