Mandibulofacial Dysostosis With Macroblepharon And Macrostomia

Clinical Features

Verloes and Lesenfants (1997) described a 7-year-old girl with severe hypertelorism, huge palpebral fissures, ectropion of the lower lid, broad raised nasal base, a wide nasal tip, long smooth philtrum, macrostomia, irregularly placed teeth, and micrognathia. Her intellectual development was normal; no internal abnormalities were reported. Her parents were young, healthy, and nonconsanguineous. Verloes and Lesenfants (1997) proposed that this child had a hitherto unreported form of mandibulofacial dysostosis.

Corona-Rivera et al. (2013) described a girl, born to nonconsanguineous parents, with macroblepharon, ectropion, macrostomia, large fontanels, broad metopic suture, capillary hemangioma, mild synophrys, hypertrichosis of the eyebrows with lateral thickening, increased density of the upper eyelid eyelashes more marked laterally, downslanting palpebral fissures, a broad nasal bridge, hypertelorism, posteriorly rotated ears, long and smooth philtrum, and a thin vermilion border to the upper lip. She initially showed mild motor delay, but mental development was normal at the age of 4 years. Lagophthalmos resulting from macroblepharon and ectropion produced corneal drying, chronic conjunctivitis, keratitis, and corneal clouding, which was apparent from the age of 2 months. Three-dimensional computed tomography scan of the craniofacial region showed large fontanels, broad metopic suture, and osseous hypertelorism. Corona-Rivera et al. (2013) suggested that the phenotype in this patient was the same as that in the patient of Verloes and Lesenfants (1997).