History of injury/surgery to breast and ovaries, delayed puberty, chronic disease/endocrinology. Ask about primary amenorrhea and secondary sexual characteristics. Family history of delayed development (constitutional) or family history of similar diagnosis. Psychological distress for school age, and the family should be addressed. These diagnoses are usually diagnosed by examination. Athelia is discovered during childhood. Amasia, amastia, and micromastia are usually discovered later during pubertal growth. If 6 months passes after the age of 17 with no changes to the size, the diagnosis is confirmed.

Whole body exam for puberty characteristics, specifically tanner stage. Inspect and palpate, measure the breast size and width. Compare both sides (if less than 2/5 of the contralateral breast, then the breast is called hypoplastic). Body length and weight and growth percentile should be assessed. Photograph should be taken, and a bone age is ordered. Rule out Poland’s syndrome and endocrine causes—e.g. adrenal hyperplasia, turner syndrome, and testicular feminization disorders (which are usually bilateral).

Breast augmentation after clinically confirming end of pubertal growth. NAC reconstruction is done to treat athelia.

A rare congenital disorder that is characterized by hypoplasia of the pectoralis muscles and ipsilateral webbing of the fingers. It can include other deformities such as scoliosis, hypoplasia of the rib cage and lungs, upper extremity hypoplasia, breast and nipple hypoplasia, and deficiency in the skin layers and content. Other muscles in the shoulder can also be affected.

Upper limbs and chest should be examined thoroughly to identify the structures involved in the disorder. X-rays should be taken for the whole upper limb including both hands.

Is focused on replacing or reconstructing the deficiency involved in the disorder. In regard to the breast, autogenous or alloplastic material can be used to replace breast tissues. Nipple-areolar complex (NAC) reconstruction is usually needed in cases where the NAC is involved.

The hand treatment is tailored to the extent of the deformity. Syndactyly release is the commonest operation needed for these patients.

Congenital chest wall deformity in which several ribs and the sternum grow abnormally, producing a concave, or caved in, appearance in the anterior chest wall.

Examine the posture of the patient, any shoulder slope. Assess the severity of the defect and the asymmetry of the chest. You should also assess the degree of sternal involvement (related to severity), the diameter and movement of the chest wall, anterior flaring of the lower ribs, and the presence of scoliosis. Complete skeletal examination should be performed to rule out Marfan and Poland associations. Complete examination of the heart and lung should be performed.

Nonsurgical treatment includes physiotherapy to correct the posture. Usually have minimal effect on the shape of the chest.

Surgical treatment includes:

Minimally Invasive Repair of Pectus Excavatum (MIRPE): Nuss procedure

Pectus carinatum is the second most common chest wall deformity observed in children (4:1 M:F). It is the protrusion of the sternum and ribs and is the opposite of pectus excavatum. It causes less functional limitation; however, pectus carinatum can lead to significant psychological distress and thus warrants an equally aggressive management approach. Physical symptoms can include musculoskeletal chest wall discomfort particularly while lying prone, respiratory symptoms, or palpitations.

Children with pectus carinatum may present at any age but typically are brought to medical attention at the time of puberty, as the deformity becomes more prominent during the adolescent growth spurt. Two distinct entities exist. The chondromanubrial variant describes protrusion of the manubrium, or superior component of the sternum, and has been termed the “pouter pigeon breast.” The chondrogladiolar variant describes protrusion of the gladiolus or body of the sternum. This deformity has also been referred to as “keel chest.”

Compressive orthotic bracing, anterior sternal compression applied via an implanted metal bar (Abramson/Nuss repair), or removal of the abnormal rib cartilage while preserving the perichondrium and allowing regrowth of rib cartilage to the sternum in a more anatomic fashion combined with sternal osteotomy (Ravitch procedure).

A hypoplastic breast deformity that may affect bilateral or unilateral breasts in varying severity. Von Heimburg, Grolleau, and Meara have all proposed similar classification schemes that are the most widely used.

The range of physical findings includes elevation of the IMF, a constricted breast base, glandular hypoplasia, deficient skin envelope, and herniation of the breast parenchyma into the NAC.

Numerous methods have been described with all attempting to release or enlarge a constricted base, augment volume as needed (implant and/or autologous), reposition the IMF, and reduce the size and herniation of the NAC. For mild-moderate deformities, this can be done via a periareolar incision in a single-stage manner, while severe cases may require multiple stages with tissue expansion.

Rare, extreme breast hypertrophy in peripubertal girls causing physical/psychological debilitation. Patients have a history of alarming rapid growth with breast pain, neck or back pain, and discomfort. This enlargement can occur at any time during the peripubertal period, sometimes occurring with the onset of thelarche and usually has a rapid phase lasting several months followed by a slower more indolent growth lasting years.

Exam demonstrates a firm glandular breast that may be tender and asymmetric. Patients may have a slouching posture and shoulder grooving (due to bra straps) similar to benign macromastia. Enlargement of the NAC is present as are skin changes such as thinning, ulcer or necrosis, and prominent veins. Nodules or masses may be palpated. Diagnosis is done after ruling out endocrine factors or masses in the breast.

At the time of diagnosis, tamoxifen may be considered. A subcutaneous mastectomy with complete removal of breast tissue is the best option for recurrence but more deforming. Reduction mammoplasty has a better aesthetic but has a higher chance of recurrence; however, if followed by tamoxifen, the rate of recurrence is decreased. Patient should be counseled on the risk of recurrence with close follow-up.