The Costello syndrome: Are nasal papillomata essential?

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...

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Bibliographic Details
Published inJournal of human genetics Vol. 38; no. 4; pp. 437 - 444
Main Authors Yoshida, R, Fukushima, Y, Ohashi, H, Asoh, M, Fukuyama, Y
Format Journal Article
LanguageEnglish
Published Japan 01.12.1993
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - physiopathology
Child
Child, Preschool
Female
Humans
Male
Nose Neoplasms - physiopathology
Papilloma - physiopathology
Syndrome
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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. Borochowitz et 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.
ISSN:1434-5161
0916-8478
1435-232X
DOI:10.1007/BF01907992