Reply to correspondence from Shipkov and Anastassov—“bilateral Poland anomaly: Does it exist?”

We are glad to respond to the letter of doctors Shipkov and Anastassov who have made comments on our case report [Karnak et al., 1998]. We have re-evaluated our report considering the current status of the patient and have taken their criticisms into consideration. Poland anomaly (PA) is a rare entity with an incidence rate between 1 in 30,000 to 100,000 live births. Initial description had been made by Alfred Poland in 1841 and Thompson summarized full spectrum of anomalies associated with this anomaly in 1895 and the entity was labeled as ‘‘Poland’s syndrome’’ by Clarkson in 1962 [Shamberger, 1998; Slezak and Sasiadek, 2000]. Poland anomaly consists of unilateral absence of the pectoralis major and/or pectoralis minor muscle and brachysyndactyly. Other components are absence or hypoplasia of ribs, chest wall depression, scoliosis, athelia or amastia, absence of axillary hair and limited subcutaneous fat frequently on the affected side [Shamberger, 1998; Hammer, 1999; Slezak and Sasiadek, 2000]. The diagnosis of PA is based on the presence of aplasia or hypoplasia of the sternocostal portion of the pectoralis major muscle and in addition at least one of the other associated lesions. Therefore, the diagnosis of PA was strictly correct in our case. The severity and extension of components of PA varies greatly between individuals. Although associated lesions are frequently encountered on the affected side, there are case reports with contralateral hand and cranial nerve abnormalities and even bilateral occurrence of associated abnormalities [Vieto et al., 1994; Hammer, 1999; Slezak and Sasiadek, 2000]. We think bilateral occurrence is not surprising for PA from the etiopathological point of view. Moebius syndrome is defined as congenital bilateral palsy of the sixth and seventh cranial nerves. The most probable pathogenesis for this entity is interruption of embryonic blood supply; also known as subclavian artery supply disruption sequence, and a similar mechanism has also been suggested for Poland anomaly [St Charles et al., 1993]. Occurrences of both syndromes in the same individuals support this and bilaterality cannot be totally refused in PA [St Charles et al., 1993; Kiratli and Erdener, 2000]. Although the details could not be derived from the report, Shamberger has mentioned a case of bilateral PA [Shamberger et al., 1989]. Additionally bilateral occurrence of associated lesions raises the possibility of bilaterality [Vieto et al., 1994; Hammer, 1999; Slezak and Sasiadek, 2000]. The term bilateral PA is a bit confusing when we suppose the original description. However, there is no need for a new nomenclature for this known entity. We think the possibility of bilateral occurrence of both the major and minor components of PA should be kept in mind. Milder forms with bilateral anomalies may be easily overlooked and increased awareness of bilateral occurrence will provide new cases of bilateral PA. The patient we have reported is currently 11-years old. She underwent scoliosis correction 4 years ago. She is free of pulmonary symptoms and needs no medication. The height and weight are within normal ranges. Uniform and prominent findings on skeletal radiographs may direct attentions to the possibility of skeletal dysplasia, which is not prominent in PA. This topic had been discussed previously in the case report [Karnak et al., 1998] and our related letter [Karnak et al., 1998]. There may be a kind of skeletal dysplasia in our case, but not typically asphyxiating thoracic dystrophy or Jeune disease, which is characterized by short-limbed short stature and narrow thoracic cage. Most of patients with Jeune disease die within few years of life because of pulmonary insufficiency. The surviving children present with various conditions including hepatic fibrosis, chronic renal failure due to nephronophthisis, pancreatic fibrosis, and sometimes a combination of these [Georgiou-Theodoropoulos et al., 1988; Labrune et al., 1999; Ozcay et al., 2001]. The course followed in our case does not fit into the progressive worsening encountered in this entity. We conclude that, both from the etiological view and from the bilaterality of associated lesions, existence of *Correspondence to: F. Cahit Tanyel, Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, 06100 Sıhhiye, Ankara, Turkey.