Congenital bilateral amazia associated with bilateral choanal atresia

Authors

  • Anastasios Papadimitriou,

    Corresponding author
    1. Third Department of Pediatrics, University of Athens School of Medicine, “Attikon” University Hospital, Athens, Greece
    • Third Department of Pediatrics, University of Athens School of Medicine, “Attikon” University Hospital, Rimini 1 Street, Athens 124 64, Greece.
    Search for more papers by this author
  • Olga Karapanou,

    1. Third Department of Pediatrics, University of Athens School of Medicine, “Attikon” University Hospital, Athens, Greece
    Search for more papers by this author
  • Anna Papadopoulou,

    1. Third Department of Pediatrics, University of Athens School of Medicine, “Attikon” University Hospital, Athens, Greece
    Search for more papers by this author
  • Polyxeni Nicolaidou,

    1. Third Department of Pediatrics, University of Athens School of Medicine, “Attikon” University Hospital, Athens, Greece
    Search for more papers by this author
  • Andreas Fretzayas

    1. Third Department of Pediatrics, University of Athens School of Medicine, “Attikon” University Hospital, Athens, Greece
    Search for more papers by this author

  • How to cite this article: Papadimitriou A, Karapanou O, Papadopoulou A, Nicolaidou P, Fretzayas A. 2009. Congenital bilateral amazia associated with bilateral choanal atresia. Am J Med Genet Part A 149A:1529–1531.

Abstract

Congenital absence of breast development is a very rare abnormality. It may present as an isolated finding or it may be accompanied by other congenital anomalies. Here we report on a 13.5-year-old girl presented to our pediatric endocrinology clinic because of lack of breast development. She had pubarche since the age of 10 years and was regularly menstruating since the age of 12 years. The patient's medical history was positive for bilateral complete choanal atresia that was diagnosed and corrected soon after birth. Physical examination was unremarkable except for bilateral amazia, that is, absence of palpable breast tissue and hypoplastic areolae, whereas both nipples were formed. Renal ultrasonography and chest radiography were normal. The coexistence of congenital bilateral amazia and bilateral complete choanal atresia suggests that these rare disorders may be related etiologically. The patient is scheduled for breast augmentation. © 2009 Wiley-Liss, Inc.

Ancillary