Keutel syndrome: a report of four cases.
We report four new cases of Keutel syndrome. Clinical manifestation included abnormal cartilage ossification, multiple peripheral pulmonary stenosis (PPS), brachytelephalangism, subnormal IQ, repeated respiratory infections, otitis media and hearing loss. All four children have a typical facial appearance and are of consanguineous parents. Father and the fifth offspring exhibit a normal phenotype; the mother has pulmonary stenosis. This observation confirms Keutel syndrome as a distinct autosomal recessive syndrome.
Khosroshahi
H E
HE
Division of Paediatric Cardiology, Social Security Children's Hospital, Dişkapi, Ankara, Turkey.
Uluoğlu
O
O
Olguntürk
R
R
Başaklar
C
C
D002357:Cartilage Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D006311:Hearing Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D011859:Radiography; D014421:Turkey / Q000453:epidemiology