Poland syndrome in British Columbia: Incidence and reproductive experience of affected persons

Abstract

Patients with Poland syndrome were ascertained through the British Columbia Health Surveillance Registry, through hospital records, and through practicing plastic and orthopedic surgeons. Of 44 patients who were ascertained, 28 had family histories taken and were examined. Physical findings were: absence of the sternal head of the pectoralis major in all patients, symbrachydactyly in most patients, and infrequent other associations such as ipsilateral undescended testis, Möbius syndrome, clubfoot, and submucous cleft palate. Family histories were "negative" in all cases. The 8 affected adults had 24 reportedly normal children. Mean paternal age was significantly higher than the paternal age in the population. The incidence was 1/32,000 livebirths in British Columbia. It was concluded that in the British Columbia population the syndrome is usually a sporadic event.

Concurrent Poland’s syndrome and gynaecomastia: achieving the balance using lipomodelling

“…The incidence of Poland's syndrome, often underestimated due to the variability of clinical expression, is approximately 1 in 25,000−30,000 births [1,5]. The aetiology is thought to be a hypoxic insult between 6 and 8 weeks gestation, when development of the upper limb, hand and chest musculature takes place [1].…”

Poland anomaly in mother and daughter

“…Although Poland anomaly is generally sporadic, there are several reports of familial occurrence [Fuhrmann et al, 1971;Bouvet et al, 1976;McGillivray and Lowry, 1977;David, 1982;Smith, 1982;Lowry and Bouvet, 19831. A number of theories regarding the cause of Poland anomaly have been proposed by various authors, including an exogenous effect [David, 19721, an autosomal dominant gene with variable expression [Fuhrmann et al, 1971;McKusick, 19881 or reduced penetrance [David, 19821, multifactorial inheritance [Bouvet et al, 1976;David, 19821, and delayed mutation [Sujansky et al, 19771.…”

Poland’s syndrome

“…У всех больных отсутствовала грудинная часть большой грудной мышцы с од-ной стороны, у 40 был отмечен порок развития верхней конечности и только у 4 человек верхняя конечность была интактна [9].…”