Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.
We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.
D000015:Abnormalities, Multiple / Q000235:genetics; D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D009666:Nose / Q000002:abnormalities