Genetic Background

Frontofacionasal dysplasia or dysostosis (FFND; online Mendelian inheritance in man [OMIM] 229400) is a rare craniofacial anomaly that was first described by Gollop.1 History of consanguinity or affection of siblings was re-ported in at least five families suggesting an autosomal mode of inheritance.1–4 However, our case adds up to a list of six sporadic cases previously reported as well.3,5–8 FFND shows extreme variability in the combination and severity of abnormalities which include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpe-bral fissures, facial hypoplasia, eyelid coloboma, widow peak, cranium bifidum occultum, anterior encephalocele, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula.1,2,5–8 Clinical Report A full-term baby girl of European descent was born to nonconsanguineous parents by normal spontaneous vagi-nal delivery. Themother is 27 years having a history of early abortion and another full-term normal pregnancy. The mother denied use of alcohol, tobacco, or illicit drugs during the pregnancy. However, the pregnancy was com-plicated by first trimester urinary tract infection, gesta-tional diabetes, and postpartum depression. Prenatal medications included glyburide for diabetes, prenata