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.
Similar content being viewed by others
Article PDF
References
Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H (1992): New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. Am J Med Genet43: 678–685
Costello JM (1977): A new syndrome: mental subnormality and nasal papillomata. Aust Pediatr J13:114–118
Izumikawa Y, Naritomi K, Tohma T, Shiroma N, Hirayama K (1993): The Costello syndrome: A boy with thick mitral valves and arrythmia. Jpn J Human Genet38: 329–334
Der Kaloustian VM, Moroz B, McIntosh N, Watters AK, Blaichman S (1991): Costello syndrome. Am J Med Genet41: 69–73
Martin RA, Jones KL (1991): Delineation of the Costello syndrome. Am J Med Genet41: 346–349
Note added in proof: Recently additional reports on Costello syndrome appeared in the Am J Med Genet47: Aug. 1993.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Yoshida, R., Fukushima, Y., Ohashi, H. et al. The Costello syndrome: Are nasal papillomata essential?. Jap J Human Genet 38, 437–444 (1993). https://doi.org/10.1007/BF01907992
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01907992
Key Words
This article is cited by
-
A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations
BMC Genomics (2013)
-
The costello syndrome: A boy with thick mitral valves and arrhythmias
Japanese Journal of Human Genetics (1993)