@entity2652 , described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and @entity850 of lacrimal puncta, bulky nose, mask-like facies, trapezo  dal upper lip, torsion @entity3519 and @entity1032 . We report on a family with this rare @entity600 , confirming the existence of this syndrome and its dominant inheritance. The proband had a fleshy nose, a prominant nose bridge, an hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction. CNS torsion @entity3519 , @entity427 , Babinski reflexes, poor coordination and joint laxity. The proband'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. The @entity69053 was described by Pashayan et al. (10) in four members of one family, two male and one female sib and their mother. Two other sibs were unaffected. Many of the features of the @entity69054 also occur in other well known syndromes i.e. @entity10244 . The pedigrees of the family of Pashayan et al. (10) and of our family are compatible with Mendelian dominant inheritance, either autosomal or X-linked. X-linked dominant inheritance cannot be ruled out except by male-to-male transmission, which does not occur in these families. Pashayan et al. (10) suggested that an autosomal gene with variable expressivity appears more likely. More families are needed for defining the transmission of the condition and for mapping the gene involved in the @entity2652 .

A three generations family with blepharo-naso-facial @entity600 suggestive of XXXX .

@entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity69053 :: ('MESH:C536303', 'Disease') :: ['blepharonasofacial syndrome'] @entity10244 :: ('MESH:D014849', 'Disease') :: ['Waardenburg syndrome'] @entity2652 :: ('MESH:D005148', 'Disease') :: ['blepharo-naso-facial syndrome', 'Blepharo-naso-facial syndrome'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformation syndrome'] @entity69054 :: ('MESH:C538063', 'Disease') :: ['blepharo-facio-nasal syndrome'] @entity3519 :: ('MESH:D004421', 'Disease') :: ['dystonia'] @entity850 :: ('MESH:D003251', 'Disease') :: ['stenosis'] @entity427 :: ('MESH:D012021', 'Disease') :: ['increased deep tendon reflexes']
@entity69053 :: (MESH:C536303,Disease) :: ['Pashayan syndrome']
