title: Daughter and her mildly affected father with Keipert syndrome.
abstract: A 10-year-old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance.
authors.affiliation: Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia. drdumic@mef.hr
authors.forename: Miroslav
authors.initials: M
authors.lastname: Dumic
authors.forename: Durda Dovzak
authors.initials: DD
authors.lastname: Kokic
authors.forename: Toni
authors.initials: T
authors.lastname: Matic
authors.forename: Kristina
authors.initials: K
authors.lastname: Potocki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D050277:Toe Phalanges / Q000002:abnormalities