Poland-Möbius syndrome and cocaine abuse: A relook at vascular etiology

Puvabanditsin, Surasak; Garrow, Eugene; Augustin, Gerda; Titapiwatanakul, Ruetima; Kuniyoshi, Katherine M.

doi:10.1016/j.pediatrneurol.2004.11.011

Cited by 68 publications

(53 citation statements)

References 12 publications

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“…Boys are affected more than girls. The reported frequency is 1:20 000 1. Ten percent of all cases of hand syndactyly may have the Poland sequence.…”

Section: Discussionmentioning

confidence: 99%

“…The oculomotor and trochlear can also be involved. It is also known as congenital facial diplegia, nuclear agenesis, congenital nuclear hypoplasia, congenital occulofacial paralysis and congenital abducens—facial paralysis 1. According to the pathologic changes, Mobius syndrome is classified into four groups 5.…”

Section: Discussionmentioning

confidence: 99%

“…Other anomalies associated with this syndrome include hypoplasia of the forearm, hypoplasia of the breast, agenesis of the nipple, rib cage deformities, bilateral epicanthus and talipes equinovarus 1. Boys are affected more than girls.…”

Section: Discussionmentioning

confidence: 99%

“…The combinations of Poland and Mobius anomalies are rarely described in the literatures with an estimated prevalence of 1:500 000 19–11. Some authors believe this association is an independent syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Poland syndrome consists of absence of pectoralis major muscle, syndactyly, barchydactyly and hypoplasia of the hands 1. Mobius syndrome includes a variable degree of facial paralysis with an inability to abduct the eyes beyond midpoint 1.…”

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confidence: 99%

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Poland-Mobius syndrome in an infant girl

Al-Mazrou

Alghonaim

Al-Fayez

2009

Annals of Saudi Medicine

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Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

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“…Boys are affected more than girls. The reported frequency is 1:20 000 1. Ten percent of all cases of hand syndactyly may have the Poland sequence.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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Poland-Mobius syndrome in an infant girl

Al-Mazrou

Alghonaim

Al-Fayez

2009

Annals of Saudi Medicine

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Thromboembolism and Congenital Malformations

Parsa

Robert²

2013

JAMA Ophthalmol

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To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Methods: Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Results: Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-toleft shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemody-namic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Conclusions: Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

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Familial Poland anomaly revisited

Baban

Torre²,

Costanzo³

et al. 2011

American J of Med Genetics Pt A

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Poland anomaly (PA) is a pectoral muscle hypoplasia/aplasia variably associated with ipsilateral thoracic (TA) and/or upper limb anomalies (ULA). PA is usually sporadic and sometimes familial, making recurrence risk an issue in genetic counseling. Multidisciplinary evaluation of 240 PA patients was carried out, including physical examination of patients and their parents in 190 PA (subjects of the study). Familial conditions were classified into three groups. Group1: true familial PA (F-PA): pectoral muscle defects with familial recurrence: 8(4.2%). Group2: familial Poland-like anomaly families (F-PLA): PA index case and ≥1 relative(s) showing normal pectoral muscles but ULA and/or TA common in PA: 16(8.4%). Group3: sporadic PA (S-PA): 166(87.4%). F-PA indicated a stronger male (87.5%) and left side (62.5%) prevalence, but fewer ULA (37.5%) compared to the other two groups. Maternal transmission (6/8) was more common in F-PA. Statistical significance was not reached due to the small number of F-PA and F-PLA. Karyotyping and array-comparative genomic hybridization were performed in 13 families. Three maternally inherited copy number variants were identified in three patients: 1p31.1 deletion, Xp11.22 duplication, and 16q23.1 duplication. Interestingly, the proband's mother carrying the 16q23.1 duplication displayed moderate breast and areola asymmetry, but normal pectoral muscles on ultrasound. Though there is no recent review discussing recurrence of PA, we reviewed 31 published PA families. On the basis of our study and previous reports, familial PA is not uncommon. Nonetheless, no information can be derived either regarding a molecular basis or clinical tools with which to identify cases with recurrence risk.

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Poland-Möbius syndrome and cocaine abuse: A relook at vascular etiology

Cited by 68 publications

References 12 publications

Poland-Mobius syndrome in an infant girl

Poland-Mobius syndrome in an infant girl

Thromboembolism and Congenital Malformations

Familial Poland anomaly revisited

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