Blepharonasofacial Malformation Syndrome

Pashayan et al. (1973) described a family in which the mother and 3 children had telecanthus, lateral displacement of the lacrimal puncta, lacrimal excretory obstruction, bulky nose, masklike facies with weakness of facial muscles, torsion dystonia, and mental retardation. The affected children were 2 boys and a girl. Two sisters were unaffected.

Stoll et al. (1999) described a 3-generation family with blepharonasofacial malformations suggestive of Pashayan syndrome. As in the family of Pashayan et al. (1973), the pedigree was consistent with either autosomal dominant or X-linked dominant inheritance. The proband had a fleshy nose, a prominent nasal bridge, hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction, CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination, and joint laxity. The child's mother, brother, and maternal grandfather also showed manifestations of the syndrome. The proband and his brother had delayed developmental milestones. Hearing impairment was present in the proband, his mother, and his grandfather, but was absent in the proband's brother. It was not possible to perform molecular studies to exclude the diagnosis of Waardenburg syndrome.