Two siblings, a two-year-old boy and a one-month-old girl, both showed congenital lymphedema of the feet. The parents were healthy and apparently unrelated, but both were born on Mishima, an island with a population of 1,500, located in the Sea of Japan. The occurrence of lymphedema in these two siblings suggests autosomal recessive inheritance.
Aagenaes, Φ. 1974. Hereditary recurrent cholestasis with lymphedema. Two new families.Acta Paediatr. Scand. 63: 465–471.
Chynn, K.-Y. 1967. Congenital spinal extradural cyst in two siblings.Am. J. Roentgen. 101: 204–215.
Holmes, L.B., Fields, J.P., and Zabriskie, J.B. 1978. Hereditary late-onset lymphedema.Pediatrics 61: 575–579.
Kääriäinen, H. 1984. Hereditary lymphedema: a new combination of symptoms not fitting into present classifications.Clin. Genet. 26: 254–256.
McKusick, V.A. 1983. Mendelian Inheritance in Man. 6th Ed. Johns Hopkins Univ. Press, Baltimore.
Miller, M. and Motulsky, A.C. 1978. Noonan syndrome in an adult family presenting with chronic lymphedema.Am. J. Med. 65: 379–383.
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Kajii, T., Tsukahara, M. Congenital lymphedema in two siblings. Jap J Human Genet 30, 31–34 (1985). https://doi.org/10.1007/BF01883671
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