Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence

Abadie, Véronique; Morisseau-Durand, Marie-Paule; Beyler, Constance; Manac'h, Y; Couly, G

doi:10.1007/s00431-002-0936-6

Cited by 76 publications

(49 citation statements)

References 33 publications

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“…[25][26][27][28] According to this theory, oral motility required for mandibular growth is disrupted in the early fetal period, and mandibular hypoplasia is a secondary consequence of these neuronal or neuromuscular deficits. 29 This model is supported by experimental findings of cleft palate and mandibular hypoplasia in an induced model of oropharyngeal muscular degeneration. 30 While non-genetic aetiologies for RS have been proposed, 31 32 there are a number of reported cases describing chromosomal abnormalities associated with the non-syndromic or isolated RS [33][34][35][36][37] implicating an underlying genetic component (table 1).…”

mentioning

confidence: 65%

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

Jamshidi

2004

Journal of Medical Genetics

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mentioning

confidence: 65%

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

Jamshidi

2004

Journal of Medical Genetics

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“…In cases of Pierre-Robin syndrome, patients exhibit feeding and respiratory problems, possibly due to defects in CMN development (Abadie et al, 2002). The Moebius syndrome and some forms of autism are associated with the loss of brainstem motor nuclei (Rodier et al, 1996;Bonanni and Guerrini, 1999).…”

Section: Diseases Manifesting Cranial Motor Neuron Dysfunctionmentioning

confidence: 99%

Turning heads: Development of vertebrate branchiomotor neurons

Chandrasekhar

2003

Developmental Dynamics

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The cranial motor neurons innervate muscles that control eye, jaw, and facial movements of the vertebrate head and parasympathetic neurons that innervate certain glands and organs. These efferent neurons develop at characteristic locations in the brainstem, and their axons exit the neural tube in well-defined trajectories to innervate target tissues. This review is focused on a subset of cranial motor neurons called the branchiomotor neurons, which innervate muscles derived from the branchial (pharyngeal) arches. First, the organization of the branchiomotor pathways in zebrafish, chick, and mouse embryos will be compared, and the underlying axon guidance mechanisms will be addressed. Next, the molecular mechanisms that generate branchiomotor neurons and specify their identities will be discussed. Finally, the caudally directed or tangential migration of facial branchiomotor neurons will be examined. Given the advances in the characterization and analysis of vertebrate genomes, we can expect rapid progress in elucidating the cellular and molecular mechanisms underlying the development of these vital neuronal networks.

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“…The selective hypoplasia of the temporalis bilaterally can be related to the neuro-embryological hypothesis as poor differentiation of cephalic myogenic mesodermal which are responsive for the future formation of muscles of mastication [8]. Transient dysfunction of the brainstem region from 18th to 24th week of intrauterine life leading to failure of rhythmic fetal reflex of suckling, swallowing and fetal mandibular movements which coincides with the mother's medical history of polyhydramnios [9]. Puche et al [1] documented a case report where the mother diagnosed with polyhydramnios associated with intrauterine growth retardation of the fetus and abnormal deglutition and fetal mandibular movements.…”

Section: Discussionmentioning

confidence: 99%