Abordagem fisioterapêutica na síndrome de Alfred Poland: um relato de caso

INTRODUCTION: Alfred Poland Syndrome (APS) is a rare congenital anomaly characterized by the total absence of the pectoralis major, pectoralis minor, serratus muscles, and the breast, as well as the areolar-nipple complex, with less than 1% risk of familial recurrence. It can also present with defects in cartilage and ribs, hypoplasia of subcutaneous tissues in the chest wall, and alopecia in the axillary and nipple regions. Poland was the first to describe an anomaly involving the absence of the pectoral muscle associated with hand deformities, which was later further described by Froriep. OBJECTIVE: This study aims to document the physiotherapeutic approach in a 6-year-old female child with normal neuropsychological development and atypical motor development, in order to assist the academic community in managing this rare syndrome. METHOD: The methodology refers to a case report, based on available medical examinations and the evaluation of the pediatric patient. The evaluation consisted of a biomechanical analysis of the scapular girdle. Following this investigation, therapeutic exercises were established. Reassessments were conducted approximately every 30 days, targeting the pectoralis major, pectoralis minor, and rhomboid muscles. RESULTS: There was an increase of one strength grade in the following muscles: deltoid, teres major and minor, supraspinatus, infraspinatus, subscapularis, rhomboids, and pectoralis minor. These muscles initially presented grade 3 muscle strength and progressed to grade 4. No strength improvement was observed in the pectoralis major. The child exhibited improved body awareness, reduced muscular compensations, and better postural alignment. CONCLUSION: This case report demonstrated that physiotherapy improved the motor development of a child with Alfred Poland Syndrome, particularly in terms of muscle strength, posture, and body awareness. Family support and encouragement, especially from the parents, contributed to the child's sense of security and motivation during treatment, fostering greater engagement. The family's active involvement integrated the treatment into the child’s daily activities, helping her apply what she learned in therapy sessions and resulting in improvements in scapular girdle muscle strength, postural alignment, and body awareness.

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Revista Pesquisa em Fisioterapia
Published
2025-04-07
DOI
https://doi.org/10.17267/2238-2704rpf.2025.e5969
Primary Topic
Philosophical Thought and Analysis
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article
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article

Abordagem fisioterapêutica na síndrome de Alfred Poland: um relato de caso

Laíra Sá Lopes, Carmen Júlia Del Rey Villa Flor
Revista Pesquisa em Fisioterapia
Philosophical Thought and Analysis
article

Abordagem fisioterapêutica na síndrome de Alfred Poland: um relato de caso

Laíra Sá Lopes, Carmen Júlia Del Rey Villa Flor
article en

Abstract

INTRODUCTION: Alfred Poland Syndrome (APS) is a rare congenital anomaly characterized by the total absence of the pectoralis major, pectoralis minor, serratus muscles, and the breast, as well as the areolar-nipple complex, with less than 1% risk of familial recurrence. It can also present with defects in cartilage and ribs, hypoplasia of subcutaneous tissues in the chest wall, and alopecia in the axillary and nipple regions. Poland was the first to describe an anomaly involving the absence of the pectoral muscle associated with hand deformities, which was later further described by Froriep. OBJECTIVE: This study aims to document the physiotherapeutic approach in a 6-year-old female child with normal neuropsychological development and atypical motor development, in order to assist the academic community in managing this rare syndrome. METHOD: The methodology refers to a case report, based on available medical examinations and the evaluation of the pediatric patient. The evaluation consisted of a biomechanical analysis of the scapular girdle. Following this investigation, therapeutic exercises were established. Reassessments were conducted approximately every 30 days, targeting the pectoralis major, pectoralis minor, and rhomboid muscles. RESULTS: There was an increase of one strength grade in the following muscles: deltoid, teres major and minor, supraspinatus, infraspinatus, subscapularis, rhomboids, and pectoralis minor. These muscles initially presented grade 3 muscle strength and progressed to grade 4. No strength improvement was observed in the pectoralis major. The child exhibited improved body awareness, reduced muscular compensations, and better postural alignment. CONCLUSION: This case report demonstrated that physiotherapy improved the motor development of a child with Alfred Poland Syndrome, particularly in terms of muscle strength, posture, and body awareness. Family support and encouragement, especially from the parents, contributed to the child's sense of security and motivation during treatment, fostering greater engagement. The family's active involvement integrated the treatment into the child’s daily activities, helping her apply what she learned in therapy sessions and resulting in improvements in scapular girdle muscle strength, postural alignment, and body awareness.

Revista Pesquisa em FisioterapiaVol. 15
Hospital São Rafael (BR)
Openalex Percentile: Top 90%
Philosophical Thought and Analysis
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