title: Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.
abstract: We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell. We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant.
authors.affiliation: Department of Pediatrics, University of Torino, Torino, Italy.
authors.forename: Elga F
authors.initials: EF
authors.lastname: Belligni
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities* / Q000473:pathology; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006226:Hand Deformities / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D013064:Speech Disorders / Q000235:genetics* / Q000473:pathology