Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment

Romanini, Maria Victoria; Calevo, Maria Grazia; Puliti, Aldamaria; Vaccari, Carlotta Maria; Valle, Maura; Senes, F. M.; Torre, Michele

doi:10.1053/j.sempedsurg.2018.05.007

Cited by 54 publications

(60 citation statements)

References 27 publications

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“…A diagnosis of Poland syndrome is based on the characteristic physical findings of the condition including unilateral pectoral muscle defects, finger defects, rib cage deformities, and diaphragm defects [7]. In our case, all these findings were observed.…”

Section: Discussionmentioning

confidence: 56%

Sleep‐related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome

Sugiyama

Shiota

Yamada

et al. 2020

Respirology Case Reports

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A 24-year-old woman was referred to us with daytime sleepiness. She has two congenital intractable and rare diseases, namely, Moebius syndrome and Poland syndrome. Physiological examinations and a detailed usage analysis under a ventilation device helped to conclude that hypoglossal nerve paralysis and thoracic deformity from her two underlying diseases were associated closely with her final diagnosis of obstructive sleep apnoea and sleep-related hypoventilation due to medical disorders. Bilevel positive pressure ventilation with auto-titrating expiratory positive airway pressure was effective. This is the first report that describes in detail the causal interactions between underlying two intractable and rare diseases and sleeprelated breathing disorders.

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Section: Discussionmentioning

confidence: 56%

Sleep‐related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome

Sugiyama

Shiota

Yamada

et al. 2020

Respirology Case Reports

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“…10 Anomalies of the renal system have been reported to occur in approximately 11% of cases with PS and upper limb involvement. 5 Thus, in patients with PS, it is recommended to perform diagnostic imaging procedures, such as ultrasonography, to exclude renal involvement.…”

Section: Discussionmentioning

confidence: 99%

“…2 The condition is usually sporadic but a familial recurrence with different inheritance patterns has been also observed. 3 PS affects mostly males than females, occurs on right side around 55 to 61% of cases, 4,5 and has been variably reported with several associated anomalies and comorbidities. 3 The PS etiopathogenesis is still unknown.…”

Section: Introductionmentioning

confidence: 99%

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

et al. 2020

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Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

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“…The etiology and pathophysiology of Poland syndrome is unclear, although a vascular injury to the subclavian artery has been hypothesized [14]. The condition is seldom familial, but the transmission mechanisms are still unknown [15].…”

Section: Discussionmentioning

confidence: 99%

Poland-Mobius Syndrome With Unilateral Vocal Cord Paralysis in a Neonate

Yadav

Utture

Dande

et al. 2020

Cureus

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Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital facial weakness, impairment of abduction of eyes, associated limb anomalies, and aplasia or hypoplasia of the pectoralis muscle. We describe a case of Poland-Mobius syndrome in a neonate associated with unilateral vocal cord immobility.

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Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment

Cited by 54 publications

References 27 publications

Sleep‐related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome

Sleep‐related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Poland-Mobius Syndrome With Unilateral Vocal Cord Paralysis in a Neonate

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