Hum. Genet. 53,285 (1980)

© by Springer-Verlag 1980

AeroOysostosis and Blue Eyes

N. Niikawa ~*, I, Matsuda 2, T. Ohsawa 3, and T. Kajii 4

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan 2 Department of Pediatrics, Kumamoto University Medical School, Kumamoto, Japan s Department of Radiology, Jichi Medical College, Tochigi, Japan 4 Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan

Our at tention has been drawn to the letter of Canto et al. (1979) about our paper (Niikawa et al., 1978) dealing with two Japanese siblings, who have clinical features of acrodysostosis and blue eyes, and their mother , who has nasal hypoplasia , mild peripheral dysostosis, and brown eyes. Can to et al. (1979) claim that we postulated that ' the syndrome was something other than acrodys- ostosis. ' We suggested two alternative possibilities: (1) the family may have acrodysostosis, with blue eyes being a clinical feature of the syndrome that has hither- to been unrecognized, or (2) the family may be affected by an entity distinct f rom acrodysostosis.

Can to et al. (1979) further claim that 'since the color of the eyes is a lmost certainly a polygenic trait (Mc- Kusick, 1978), there seems to be insufficient evidence to justify the postulat ion of a distinct entity. ' In addit ion to the siblings in our paper, we are aware of three other Japanese patients with the disease, all sporadic cases and unrelated to one another (Higashi et al., 1977; Ya- mamoto , Y., and Kuroki , Y., personal communicat ion) . One of them had blue eyes, another had pale gray eyes, and the third had brown eyes. The occurrence of blue or gray eyes in three of four Japanese families with acro- dysostosis is certainly more than a chance association.

Eye color may be a polygenic trait, but the finding of blue or gray eyes in a large percentage of patients with a rare disease in a popula t ion virtually all of whose members have dark b rown eyes is significant. There is no evidence of racial mixture in any of the families involved.

References

CantO, J. M., Hernfindez, A., Panduro-Cerda, A., Nazarfi- Cazorla, N.: Autosomal dominant acrodysostosis. Hum. Genet. 47, 345--346 (1979)

Higashi, K., Nagata, K., Fujimoto, S., Sato, T.: Acrodysostosis: A case report. Kumamoto Med. J. (Japan) 30, 111--118 (1977)

McKusick, V. A.: Mendelian inheritance in man. Baltimore: Johns Hopkins 1978

Niikawa, N., Matsuda, I., Ohsawa, T., Kajii, T.: A syndrome with mental retardation, nasal hypoplasia, peripheral dys- ostosis, and blue eyes in Japanese siblings. Hum. Genet. 42, 227--232 (1978)

Received August 17, 1979

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