ABSTRACT
The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and the first one in which the patient also presents with optic atrophy. Autosomal recessive inheritance has been proposed until now, however, the increased paternal age seen in this case is suggestive of a possible autosomal dominant de novo mutation.
Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Growth Disorders/genetics , Intellectual Disability/genetics , Child, Preschool , Genes, Dominant , Humans , Male , Mutation , Optic Atrophy/genetics , SyndromeABSTRACT
Two unrelated families, one with 15 and the other with 3 members affected with macroglossia as a sole trait, are described. It is concluded that this entity differs from previously reported syndromes presenting macroglossia and is inherited in an autosomal dominant fashion.
