Poland syndrome combined with facial palsy: A case report

Poland Syndrome is a congenital malformation marked by incomplete development or absence of the pectoralis major muscle on unilateral side of the chest, typically associated with abnormalities in the ipsilateral upper limb (1). The most accepted explanation is that, around the sixth week of embryonic development, a disruption in blood flow through the subclavian artery occurs, resulting in underdevelopment or absence of chest wall tissues and upper limb deformities on the affected side (2).  Poland Syndrome is typically characterized by various anatomical defects, such as the partial absence of the pectoralis major and minor muscles, abnormalities in the costosternal area, and underdevelopment or absence of the breast and nipple. Additional features may include poorly developed subcutaneous tissue, funnel chest (pectus excavatum), and rib anomalies or absence—most frequently involving the second to fourth, or third to fifth ribs. These chest wall abnormalities are frequently associated with pulmonary herniation. The clinical presentation is highly variable, and it is uncommon for all features to occur in a single individual. The defects are usually unilateral, with a greater tendency to affect the right side (3).

Case Presentation

A 11 years old male  patient is under regular follow-up due to a rare congenital anomaly, Poland syndrome. The absence of the left pectoralis major muscle raises concerns about potential compression on internal organs; therefore, evaluations are scheduled every six months. The left hemithorax is notably thinner and particularly sensitive. Should the chest wall exert pressure on internal structures in the future, reconstructive surgery involving a prosthetic chest wall will be considered (Figure 1).

Figure 1: Absence of the left pectoralis major

The patient also presents with congenital left facial paralysis (Figure 2). Due to the agenesis of the sixth and seventh cranial nerves, the left eyelid remains open, and pupillary movements are absent . To prevent ocular surface damage, artificial tears are applied every two hours. Initially, the refractive error was measured at +6.75. With the use of an eye patch, visual adaptation was enhanced through eye exercises and therapeutic massage, resulting in a reduction of the refractive error to +2.75. The patient additionally exhibits restricted mouth opening,  and developmental delay of the tongue, leading to difficulties in swallowing. On physical examination, there is evident facial asymmetry, with a distinct drooping of the left corner of the mouth, indicating involvement of the lower facial nerve branches. The patient demonstrates limited mouth opening, which may stem from underdevelopment of the temporomandibular structures or associated musculature. Additionally, during mouth opening, the nasal base deviates toward the right, most likely due to compensatory overactivity of the unaffected facial muscles on the right. These clinical signs are consistent with a congenital deficiency or underdevelopment of the facial nerve, contributing to both functional impairment and facial imbalance (Figure 3).

Figure 3: Restricted mouth opening and drooping of the left corner of the mouth

Discussion

Poland syndrome (PS) is a congenital condition that manifests as the unilateral absence or hypoplasia of the pectoralis major muscle. This anomaly often coexists with deformities of the ipsilateral chest wall and, in some instances, upper limb abnormalities. The estimated prevalence of this syndrome lies between one in 30,000 and one in 80,000 live births, with a slightly higher incidence observed in males (4). Although surgical correction has long been the standard of care, current perspectives emphasize the necessity of a comprehensive, multidisciplinary approach—one that encompasses physiotherapy, reconstructive surgery, neurological assessment, and psychological support.

In this case, the patient exhibited agenesis of the left pectoralis major muscle and mild thoracic asymmetry without associated limb defects. Due to potential future complications, such as pressure effects on intrathoracic structures during growth, biannual monitoring was initiated. This preventive strategy is consistent with current clinical recommendations that advocate for a phased and individualized treatment framework.

A notable case study by Luciana Sena Lopes and colleagues (2025), published in the Journal of Physiotherapy Research, highlighted the efficacy of a targeted physical therapy program in a young child with Poland syndrome. Their patient benefited from interventions that included thoracic mobility exercises, scapular stabilization, and respiratory training. Despite the congenital absence of the pectoralis major, significant improvements in shoulder function and postural control were achieved by strengthening compensatory muscles such as the deltoid, serratus anterior, and rhomboids. Drawing from this evidence, an individualized physiotherapy protocol has been recommended in our case, aiming to enhance thoracic flexibility, stabilize the scapula, and build trunk muscle strength.

Additionally, a 2022 study by Allam et al., featured in Clinics, described a case in which scapular winging associated with Poland syndrome responded positively to conservative physiotherapy over a two-month period. Although scapular winging was not observed in our patient, early stabilization exercises remain critical to preventing compensatory dysfunctions.

In terms of reconstructive options, Wang et al. (2025) conducted a randomized controlled trial comparing traditional autologous fat grafting with a novel method combining botulinum toxin. Their findings, published in the Journal of Cosmetic Dermatology, revealed superior outcomes in fat retention and patient satisfaction in the combination group. Similarly, a retrospective 10-year follow-up by researchers in Modern Plastic Surgery (2024) supported the use of two-stage expander-to-implant reconstruction, particularly among female patients with left-sided involvement.

Furthermore, both Tafti and Cecava (2022) in StatPearls, and Sorrenti et al. (2024) in Medicina, emphasized that optimal management of PS involves collaborative care. Recommended team members include thoracic and plastic surgeons, physiotherapists, neurologists or ophthalmologists for patients with cranial nerve abnormalities, and psychologists to address the psychosocial challenges that may arise, especially in pediatric populations.

In our patient’s case, left-sided facial palsy resulting from congenital absence of cranial nerves VI and VII points toward a potential Moebius-Poland overlap. The treatment strategy included regular application of artificial tears to manage lagophthalmos, and the use of visual rehabilitation methods such as periocular massage and controlled visual stimulation—interventions widely used in pediatric oculomotor therapy.

Poland syndrome is a rare congenital disorder typically involving the unilateral absence or underdevelopment of the pectoralis major muscle, often accompanied by chest wall or upper limb abnormalities. While surgical reconstruction is commonly pursued to correct physical deformities, physiotherapy plays a crucial supportive role in enhancing functional outcomes and preventing secondary complications.

In a recent 2025 case report by Lopes and Flor, a six-year-old girl with Alfred Poland Syndrome received a targeted physiotherapy program focused on scapular stabilization, postural correction, and muscle strengthening. Despite the absence of the pectoralis major, the patient showed measurable gains in other muscle groups—such as the deltoid, rhomboid, and infraspinatus—demonstrating that rehabilitation can lead to significant functional improvements, even in the presence of congenital muscular deficits.

Scapular winging is a common secondary problem in Poland syndrome and has been successfully addressed through specific physiotherapy interventions. A 2023 case report published in Clinics described noticeable improvements in posture and upper limb function after a structured shoulder rehabilitation program, further confirming the value of physical therapy in addressing muscular imbalance.

The 2020 Italian consensus statement on Poland syndrome also emphasizes a multidisciplinary treatment model in which physiotherapy is considered an essential element, particularly for pediatric patients. Although the consensus provides general guidelines, it also calls for standardized rehabilitation protocols and long-term monitoring to ensure optimal outcomes.

In summary, while surgery focuses on structural correction, physiotherapy is essential for restoring function, enhancing posture, and supporting daily life activities. Recent case reports and expert recommendations highlight the importance of individualized rehabilitation programs—especially those targeting scapular control and compensatory muscle training—as a fundamental part of managing Poland syndrome.

Conclusion

This case illustrates the value of implementing early physiotherapy, considering innovative surgical techniques like botulinum toxin–assisted fat grafting, and adopting a team-based model of care. Through such a multifaceted approach, it is possible to not only address the visible deformities associated with Poland syndrome but also to improve long-term physical function and psychosocial health outcomes.

Kaynaklar

1. Al Faleh K, Al Saadi M, Khalid-Bantuas S. Poland's Syndrome with Absent Limb Anomalies. J Clin Neonatol. 2014 Jan;3(1):44-6.
2. Ibrahim A, Ramatu A, Helen A. Poland syndrome a rare congenital anomaly. Indian J Hum Genet. 2013 Jul;19(3):349-51.
3. Tafti D, Cecava ND. Poland Syndrome. 2023 May 22. 
4. Lopes, L.S. and Flor, C. 2025. Physiotherapeutic approach in Alfred Poland syndrome: a case report. Journal of Physiotherapy Research. 15, (Apr. 2025), e5969. DOI:https://doi.org/10.17267/2238-2704rpf.2025.e5969.

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