Poland‐Moebius syndrome in a boy and Poland syndrome in his mother

Rojas-Martínez, A.; Garcı́a-Cruz, Diana; Garcia, Antonio R.; Sánchez‐Corona, José; Rivas, F.

doi:10.1111/j.1399-0004.1991.tb03081.x

Cited by 33 publications

(10 citation statements)

References 21 publications

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“…Even if most Moebius cases are sporadic, some familial trends have been seen with both autosomal dominant and recessive patterns. [64][65][66][67][68] In particular, the risk of hereditariness is as low as 2% when MBS is linked to musculoskeletal anomalies, but it increases to 25% to 30% with clinical features suggesting a genetic etiology such as isolated facial palsy, deafness, ophthalmoplegia and digital contractures. 69 Genetic studies have mainly focused on potential chromo- Mutations in homeobox genes may also influence other genes, therefore determining the varying phenotypes characterizing the syndrome.…”

Section: And Vonmentioning

confidence: 99%

Congenital facial palsy and emotion processing: The case of Moebius syndrome

Stefani

Nicolini

Belluardo

et al. 2019

Genes Brain and Behavior

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According to the Darwinian perspective, facial expressions of emotions evolved to quickly communicate emotional states and would serve adaptive functions that promote social interactions. Embodied cognition theories suggest that we understand others' emotions by reproducing the perceived expression in our own facial musculature (facial mimicry) and the mere observation of a facial expression can evoke the corresponding emotion in the perceivers. Consequently, the inability to form facial expressions would affect the experience of emotional understanding. In this review, we aimed at providing account on the link between the lack of emotion production and the mechanisms of emotion processing. We address this issue by taking into account Moebius syndrome, a rare neurological disorder that primarily affects the muscles controlling facial expressions. Individuals with Moebius syndrome are born with facial paralysis and inability to form facial expressions. This makes them the ideal population to study whether facial mimicry is necessary for emotion understanding. Here, we discuss behavioral ambiguous/mixed results on emotion recognition deficits in Moebius syndrome suggesting the need to investigate further aspects of emotional processing such as the physiological responses associated with the emotional experience during developmental age.

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Section: And Vonmentioning

confidence: 99%

Congenital facial palsy and emotion processing: The case of Moebius syndrome

Stefani

Nicolini

Belluardo

et al. 2019

Genes Brain and Behavior

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“…Most reported cases of PS are sporadic, however familial cases have been occasionally described [Cobben et al, 1989; Darian et al, 1989; Rojas‐Martínez et al, 1991; Shalev and Hall, 2003]. These families showed intrafamilial variability.…”

Section: Discussionmentioning

confidence: 99%

Poland syndrome with bilateral features: Case description with review of the literature

Baban¹,

Torre²,

Bianca

et al. 2009

American J of Med Genetics Pt A

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Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3(1/2)-year-old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed.

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“…La mayoría de los casos de SP reportados son esporádicos, sin embargo, ocasionalmente se han reportado casos familiares. Estos casos han mostrado gran variabilidad intrafamiliar [5][6][7][8] . Junto con esto se han reportado a la vez asociación del síndrome de Poland con otros defectos del desarrollo como el síndrome de Klippel-Feil, �ue consiste en la segmentación de la columna cervical, defecto �ue secundariamente causa la tríada de cuello corto, inserción posterior del pelo baja, cuello ancho con limitación de los movimientos cervicales 9 .…”

Section: Discussionunclassified

Asociación Sindromática: Poland, Goldenhar, Moebius, Klippel-Feil. Presentación de un Caso Clínico

2010

Rev. chil. pediatr.

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Poland, Goldenhar, Moebius, Klippel-Feil Syndrome. A Clinical CasePoland Syndrome is a congenital defect characterized by a unilateral absence of the clavicular and sternocostal portion of the pectoralis muscles associated to abnormalities of other muscles of the thoracic wall, ribs, breast and upper extremity. It is found in one of 20 to 32 thousand newborns. It is found sometimes associated to other syndromes, most often with Moebius Syndrome, and rarely with Goldenhar and Klippel-Feil. Due to the association, a common pathogenic cause has been postulated, that being an anomaly of vascularization during embrionary development. Clinical Case: A newborn male was seen who presented with Poland, Goldenhar, Moebius and Klippel-Feil Syndromes. Clinically, he presented left hemifacial mycrosomy, microtia, shortening and paralysis of the facial nerve; his neck was short and movement was limited due to C4-C5 fusion; agenesis of left pectoralis, hypoplasia of left radius and hand. There was no known additional family cases, being thus, a sporadic syndromatic association.

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Poland‐Moebius syndrome in a boy and Poland syndrome in his mother

Abstract: A 4 4/12‐year‐old boy with the Poland‐Moebius syndrome, whose mother had the Poland syndrome, is presented. This is the first report of the occurrence of both syndromes in the same family, suggesting that they are expressions of the same autosomal dominant gene.

Cited by 33 publications

References 21 publications

Congenital facial palsy and emotion processing: The case of Moebius syndrome

Congenital facial palsy and emotion processing: The case of Moebius syndrome

Poland syndrome with bilateral features: Case description with review of the literature

Asociación Sindromática: Poland, Goldenhar, Moebius, Klippel-Feil. Presentación de un Caso Clínico

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