M�bius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

Criado, Germán Rodríguez; Aytés, Antonio Pérez

doi:10.1002/(sici)1096-8628(19991029)86:5<492::aid-ajmg17>3.0.co;2-e

Cited by 14 publications

(6 citation statements)

References 19 publications

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“…In our review, which focused on patients with congenital facial weakness associated with impairment of ocular abduction [Verzijl et al, 2003], we observed that the familial cases usually presented with findings limited to the cranial nerves, and few additional features (such as the skeletal abnormalities), while sporadic cases showed other associated findings. Exceptions included the cases of Singh et al 1992, Criado and Perez Aytes 1999, and the present report. No specific skeletal abnormality could differentiate the sporadic patients, from the familial cases.…”

Section: To the Editormentioning

confidence: 54%

“…Although there is not enough evidence to prove this mode of inheritance, it may be that in some instances the syndrome results from a new dominant mutation [Kumar, 1990]. Presumed autosomal recessive [Legum et al, 1981; Singh et al, 1992; Criado and Perez Aytes, 1999] and X‐linked recessive patterns of inheritance [Journel et al, 1989] have also been proposed, but they are less commonly reported. The description of Hanissian et al 1970, with monozygotic twins affected by Moebius syndrome, also suggests a possible genetic cause for the condition.…”

Section: To the Editormentioning

confidence: 99%

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New report of a familial case of Moebius syndrome presenting skeletal findings

Graziadio

Lorenzen

Rosa

et al. 2010

American J of Med Genetics Pt A

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Moebius syndrome (OMIM 157900) is a rare congenital condition clinically characterized by congenital facial diplegia and sixth cranial nerve palsy. Dysfunction of other cranial nerves, malformations of orofacial structures, and limb anomalies may also be present. The etiology is not well defined and is heterogeneous [Briegel, 2006]. Causes include chromosomal abnormalities [Verzijl et al., 1999], and exposure to teratogens and vascular events during gestation [Bouwes-Bavinck and Weaver, 1986]. Most cases are sporadic; however, familial descriptions have been rarely reported [Briegel, 2006]. Herein, we describe a familial case of Moebius syndrome suggestive of an autosomal dominant inheritance and presenting with skeletal anomalies.The patient was a boy with facial palsy and involvement of other cranial nerves and clubfeet; his mother had similar features. He was the only son of young and nonconsanguineous parents. He was born at term, by cesarean, cephalic presentation, measuring 48 cm (25th centile), weighing 3,095 g (10th-25th centile), with head circumference of 36 cm (50th-98th centile) and Apgar score of 9 at 1st and 5th min. His pregnancy was uneventful. There was no history of vaginal bleeding or abdominal cramps. Fetal ultrasonographic evaluation performed at 33 weeks of gestation disclosed a pelvic presentation and normal amniotic fluid. The mother denied the use of smoke, alcohol or any potential teratogenic agent or attempts at abortion.The child needed to be hospitalized at 16 days of age due to fever and infection of the umbilical stump. He had difficulty closing the left palpebral eyelid, asymmetric crying facies, deep palmar creases, sacral dimple, bilateral restriction of hips and knees, clubfeet and preservation of the newborn reflexes. Radiographic evaluation showed right coxa vara, left hip luxation with poor definition of the acetabulum, hypoplastic ossification nucleous of the proximal femoral epiphysis, clubfeet and osteopenia. Brain ultrasound and computerized tomography scan, electroencephalogram, and TORCH serologies were normal. Echocardiography and abdominal ultrasound did not disclose any abnormality. Ophthalmologic assessment verified a left facial palsy, lagophthalmus, motility restriction of the left eye in all directions, and divergent strabismus (exotropia; Table I). Neurological evaluation showed preservation of upper limbs strength; due to limited motion the lower limbs could not be properly assessed. Electromyography showed moderate to severe, chronic and active dysfunction, of both facial nerves (major commitment at left). Right upper and lower limb motor conduction was within the normal range. Hearing was not tested, but no difficulty was noted. His serum muscle enzymes, as well GTG -banding karyotype (550 bands) were normal.Use of plaster casts for the lower limbs until the end of his first year of life was necessary. At 1 year and 3 months he measured 70 cm (<3rd centile), weighed 9,850 g (10th centile), and had a head circumference of 48 cm (50th centile). A ''mask-like'' ...

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Section: To the Editormentioning

confidence: 54%

Section: To the Editormentioning

confidence: 99%

New report of a familial case of Moebius syndrome presenting skeletal findings

Graziadio

Lorenzen

Rosa

et al. 2010

American J of Med Genetics Pt A

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“…La afectación, generalmente, es bilateral, pero también existen casos de afectación unilateral que obligan a realizar el diagnóstico diferencial con la parálisis facial obstétrica, aunque la afectación de otros pares craneales y los hallazgos neurofisiológicos permiten diferenciar ambos procesos (70). Los estudios electrofisiológicos indican un proceso del tallo cerebral que afecta predominantemente los núcleos faciales y sus conexiones internucleares, en lugar de un sitio supranuclear o muscular de la participación (71).…”

Section: Electrodiagnósticounclassified

Manifestaciones clínicas del Síndrome de Möbius: scoping review

et al. 2022

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El síndrome de Möbius (SM) hace parte de un grupo de desórdenes genéticos conocidos como desordenes congénitos de denervación craneal (CCDD). Se trata de una parálisis oculofacial congénita infrecuente con pocos casos reportados desde su primera descripción por Von-Graefe en 1880 y Moebius en 1888. La prevalencia del síndrome de Möbius se estima que es entre 1-2 por cada 10.000 nacimientos, afectando por igual a ambos sexos. Se caracteriza por compromiso de múltiples nervios craneales, más frecuentemente el VI y VII par. Entre los signos y síntomas de mayor relevancia están la inhabilidad para realizar expresiones faciales, y compromiso de la mirada conjugada. Múltiples posibles causales han sido estudiadas, pero no se ha determinado una etiología específica, entre estas causas están los trastornos vasculares secundarios a medicamentos, tóxicos, fenómenos de la actividad uterina, así como la teoría familiar genética de herencia autosómica dominante. Es frecuente que este síndrome curse con malformaciones extracraneales en particular de los miembros superiores. El diagnóstico se hace generalmente en la infancia, es principalmente clínico, sin embargo, la confirmación imagenológica es necesaria. Aunque la sintomatología no es progresiva es indispensable que el abordaje sea multidisciplinario incluyendo valoración inicial por Neurología, Genética, manejo quirúrgico por Cirugía Plástica, Terapia Física, y Rehabilitación neurológica.

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“…Familial patterns have also been identified but do not appear to contribute to a majority of cases [ 12 ]. Some have suggested that the presence or absence of limb anomalies may be an important indicator for decreased or increased risk of inheritance, respectively [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Some have suggested that the presence or absence of limb anomalies may be an important indicator for decreased or increased risk of inheritance, respectively [ 3 ]. Various modes of inheritance have been identified across the literature of multiple subspecialties [ 12 – 15 ]. A specific and consistent genetic abnormality has not been clearly identified, though efforts continue and have shown some variation [ 16 – 22 ].…”

Section: Introductionmentioning

confidence: 99%

Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study

McClure

Booy

Katarincic

et al. 2016

International Journal of Pediatrics

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Background. Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. We focus on reporting the prevalence of orthopedic disease in this population. Methods. Twenty-three individuals with Mobius Syndrome underwent orthopedic physical examination, and additional 96 patients filled out a survey for self-reported orthopedic diagnoses. Results. Clubfoot was present in 60% of individuals in the physical exam series and 42% of those in the survey. Scoliosis was present in 26% and 28%, respectively. Poland's Syndrome was present in 17% and 30%. In addition to these findings, 27% of patients reported having difficulty with anesthesia, including difficulty in intubation and airway problems. Conclusion. An increased prevalence of scoliosis, clubfoot, transverse limb deficiencies, and Poland's Syndrome is identified in the setting of Mobius Syndrome. In the setting of several deformities often requiring surgical correction, a high incidence of anesthetic difficulty is noted and should be discussed with patients and other providers during surgical planning.

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M�bius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

Cited by 14 publications

References 19 publications

New report of a familial case of Moebius syndrome presenting skeletal findings

New report of a familial case of Moebius syndrome presenting skeletal findings

Manifestaciones clínicas del Síndrome de Möbius: scoping review

Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study

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