The Costello syndrome: Are nasal papillomata essential? |
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Authors: | Reiko Yoshida Yoshimitsu Fukushima Hirofumi Ohashi Masako Asoh Yukio Fukuyama |
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Institution: | (1) Department of Pediatrics, Tokyo Women's Medical College, Kawada-cho, Shinjuku-ku, 162 Tokyo, Japan;(2) Division of Medical Genetics, Saitama Children's Medical Center, 339 Iwatsuki, Saitama, Japan;(3) Johoku Branch Hospital, Tokyo Metropolitan Kita Medical Rehabilitation Center for the Handicapped Minamihanabatake, Adachi-ku, 121 Tokyo, Japan |
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Abstract: | Summary Two patients with the Costello syndrome are presented. One was a 7-year-old girl with a history of infantile hypotonia and feeding difficulties. The other was a 3 5/12-year-old boy with a history of neonatal sepsis and respiratory problems. Both had relative macrocephaly at birth, curly hair, large ear lobes, epicanthic folds, a low nasal bridge, thick lips, a short and wide nose, a short neck, a barrel chest, redundant skin, tight Achilles tendons, and pes equinovarus. Nasal papillomata, as described in Costello's two patients, were absent in both patients. Borochowitzet al. (1992) described five patients with what we interpreted as the Costello syndrome but without nasal papillomata. In view of these findings, nasal papillomata are not likely to be essential in the diagnosis of the Costello syndrome. |
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Keywords: | Costello syndrome nasal papillomata tight Achilles tendons redundant skin facio-cutaneous-skeletal syndrome |
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