Brachysyndactyly in Poland Syndrome

Abstract

A 36-year-old man presented with incidental findings of an asymmetric chest with hypoplastic and flattened left anterior chest wall due to absent left pectoralis major. He also had short and webbed fingers in the left hand. These deformities were present since birth. Chest X-ray showed hyperlucency on the left side. Computerized tomography (CT) scan showed an absence of the left pectoralis major. X-ray of the left hand showed hypoplasia of the proximal phalanx and aplasia of the middle and distal phalanges of the second digit, and aplasia of the middle phalanges of the third and fourth digits. A diagnosis of left-sided Poland syndrome with associated ipsilateral brachysyndactyly, which is a very rare entity, was made. The patient opted against any reconstructive procedure as he had a minimal functional limitation.

Keywords: associated anomalies; brachysyndactyly; left-sided; poland syndrome; reconstructive surgery.

Figure 1. Clinical picture

(A) Asymmetric chest with hypoplastic and flattened left anterior chest wall, absent pectoralis major, and smaller and higher left nipple; (B) Small and webbed 2nd, 3rd, and 4th digits representing brachysyndactyly of the left hand.

Figure 2. Radiographs

(A) Chest X-ray showing hyperlucency on the left side with normal lung parenchyma, heart shadow, and ribs; (B) X-ray of the left hand showing hypoplasia of the proximal phalanx, aplasia of the middle and distal phalanges of the 2nd digit, and aplasia of the middle phalanges of the 3rd and 4th digits.