Abstract
We report four new cases of Keutel syndrome. Clinical manifestation included abnormal cartilage ossification, multiple peripheral pulmonary stenoses (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.
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Abbreviations
- PPS:
-
peripheral pulmonary stenosis
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Khosroshahi, H.E., Uluoğlu, Ö., Olguntürk, R. et al. Keutel syndrome: A report of four cases. Eur J Pediatr 149, 188–191 (1989). https://doi.org/10.1007/BF01958278
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DOI: https://doi.org/10.1007/BF01958278