Daughter and her mildly affected father with Keipert syndrome.
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.
Dumic
Miroslav
M
Department of Pediatrics, University Hospital Rebro, Zagreb, Croatia. drdumic@mef.hr
Kokic
Durda Dovzak
DD
Matic
Toni
T
Potocki
Kristina
K
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