Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 1
Description
Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (305100) and Poland syndrome (173800) (summary by Papadimitriou et al., 2009).
Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or Nipples
An autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2; 616001) is caused by mutation in the PTPRF gene (179590) on chromosome 1p34.
Clinical FeaturesGoldenring and Crelin (1961) described absence of breast and nipples in a mother and daughter, as did Trier (1965).
Greenberg (1987) described a female infant with athelia and choanal atresia, born to a woman treated for hyperthyroidism throughout pregnancy with methimazole and propranolol. The possibility of methimazole teratogenicity was raised.
Papadimitriou et al. (2009) reported a 13.5-year-old Greek girl, born of nonconsanguineous parents, who had bilateral amazia, hypoplastic areolae, and normal nipple formation. In addition, bilateral choanal atresia had been detected soon after birth and surgically corrected. Physical examination of the patient was otherwise unremarkable, and renal ultrasonography and chest radiography were normal.
InheritancePedigrees consistent with dominant inheritance have been reported. Fraser (1956) found absent breasts in 7 members of 3 generations.
Wilson et al. (1972) described 7 persons with absence or hypoplasia of the breasts in 4 generations. The observations to date did not permit distinction between autosomal and X-linked inheritance.