Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome

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 s calp, alopecia over the vertex, wide-open fontanelle, high forehead, antimo ngoloid slant, edematous eyelids, the absence of eyebrows and eye lashes, b eaked nose with alae nasi, low-set ears, thin lips, and micrognathia. Inves tigations revealed deafness and congenital hypothyroidism. We believe that this association of severe intrauterine growth retardation and congenital h eart disease represents the components of this syndrome.