Abstract
We report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an absent ulna and hypoplasia of the ipsilateral shoulder girdle.
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Garn, S. M., et al.: Radiology 105, 376–377 (1972). Quoted in: Poznanski, A. K. The hand in radiologic diagnosis, pp. 33–34. Philadelphia: W. B. Saunders 1974
Gilly, E.: Absence complète des mammales chez une femme mère. Atrophie du membre superieur droit. Courrier méd. 32, 27–28 (1882)
Herrmann, J., Opitz, J. M.: Naming and nomenclature of syndromes. In: Birth Defects Original Article Series. Malformation syndromes X(7) (ed. D. Bergsma), pp. 69–86. Miami: Symposia Specialists (for the National Foundation-March-of-Dimes) 1974
Pallister, P. D., Herrmann J., Opitz, J. M.: Studies of malformation syndromes in man XXXXII: A pleiotropic dominant mutation affecting skeletal, sexual and apocrinemammary development. Birth Defects Original Article Series 12/5, 247–254 (1976)
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Supported by DHEW/PHS Grant GM20130 from the National Institute of General Medical Sciences. Paper No. 2007 from the University of Wisconsin Genetics Laboratory.
Supported by Grant 75/0186 from FAPESP (Fundação de Amparo à Pesquisa do Estado de S. Paulo), S. Paulo, Brazil.
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Gonzalez, C.H., Herrmann, J. & Opitz, J.M. Studies of malformation syndromes of man XXXXIIB: Mother and son affected with the ulnar-mammary syndrome type Pallister. Eur J Pediatr 123, 225–235 (1976). https://doi.org/10.1007/BF00444644
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DOI: https://doi.org/10.1007/BF00444644