Moebius syndrome with total anomalous pulmonary venous connection

Suvarna, Jyoti

doi:10.1007/bf02758568

Cited by 12 publications

(9 citation statements)

References 9 publications

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“…Other signs include lingual involvement, dysfunction of palate and pharynx, general motor disability, poor coordination, respiratory abnormalities and cardiac anomalies (Verzijl et al, 2003;Suvarna et al, 2006). Disturbances in psychomotor and speech development are very common in Moebius syndrome (Briegel, 2006).…”

Section: Discussionmentioning

confidence: 97%

A family with hereditary congenital facial paresis and a brief review of the literature

Alrashdi

Rich²,

Patton³

2010

Clinical Dysmorphology

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Hereditary congenital facial paresis is a rare syndrome of isolated facial nerve palsy causing facial asymmetry and ptosis. Most described cases follow an autosomal dominant pattern of inheritance. It differs from Moebius syndrome, which is usually sporadic and associated with the involvement of other cranial nerves, commonly the abducens nerve in addition to orofacial and limb malformations and defects of the musculoskeletal system. We present three patients from the same family with features of congenital hereditary facial paresis. Facial asymmetry and facial weakness were the most remarkable findings. High-resolution imaging showed both facial nerves to be present but symmetrically and markedly hypoplastic with no other structural abnormality in the brainstem. This syndrome has been previously mapped to chromosome 3q21-22 but no gene has been identified as yet.

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Section: Discussionmentioning

confidence: 97%

A family with hereditary congenital facial paresis and a brief review of the literature

Alrashdi

Rich²,

Patton³

2010

Clinical Dysmorphology

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“…Further cases of HOXB1-related HCFP would be necessary before we can confidently establish an association between the genotype and the phenotype of external ear malformation in this rare disease. External ear malformation is not an uncommon occurrence in MBS patients [Suvarna et al, 2006]. Additionally, a combined phenotype of CFP and external ear anomalies has been reported in an unknown autosomal dominant syndrome characterised by conductive deafness due to stapedial anomalies, external ear malformations, and CFP [Sellars and Beighton, 1983].…”

Section: Discussionmentioning

confidence: 99%

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Mehrjardi

Maroofian

Kalantar³

et al. 2017

Mol Syndromol

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Hereditary congenital facial palsy (HCFP) is a rare congenital cranial dysinnervation disorder, recognisable by non-progressive isolated facial nerve palsy (cranial nerve VII). It is caused by developmental abnormalities of the facial nerve nucleus and its nerve. So far, 4 homozygous mutations have been identified in 5 unrelated families (12 patients) with HCFP worldwide. In this study, a large Iranian consanguineous kindred with 5 members affected by HCFP underwent thorough clinical and genetic evaluation. The candidate gene HOXB1 was screened and analysed by Sanger sequencing. As in previous cases, the most remarkable findings in the affected members of the family were mask-like faces, bilateral facial palsy with variable sensorineural hearing loss, and some dysmorphic features. Direct sequencing of the candidate gene HOXB1 identified a novel homozygous frameshift mutation (c.296_302del; p.Y99Wfs*20) which co-segregated with the disease phenotype within the extended family. Our findings expand the mutational spectrum of HOXB1 involved in HCFP and consolidate the role of the gene in the development of autosomal recessive HCFP. Moreover, the truncating mutation identified in this family leads to a broadly similar presentation and severity observed in previous patients with nonsense and missense mutations. This study characterises and defines the phenotypic features of this rare syndrome in a larger family than has previously been reported.

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“…Other abnormalities include lingual hypoplasia, sensorineural hearing loss, craniofacial malformations (epicanthic folds, micrognathia), and abnormalities of the extremities (syndactyly, pes planus, valgus femur) [6,8]. Cardiovascular abnormalities are rarely present but can include dextrocardial, atrial, or ventricular septal defect, transposition of the great vessels, and total anomalous pulmonary venous connection [9][10][11][12][13]. Although most patients have normal intelligence, approximately 10 % of patients have mental retardation, and another 30-40 % may be diagnosed with autism [8,9].…”

Section: Introductionmentioning

confidence: 99%

“…Cardiovascular abnormalities are rarely present but can include dextrocardial, atrial, or ventricular septal defect, transposition of the great vessels, and total anomalous pulmonary venous connection [9][10][11][12][13]. Although most patients have normal intelligence, approximately 10 % of patients have mental retardation, and another 30-40 % may be diagnosed with autism [8,9].…”

Section: Introductionmentioning

confidence: 99%

Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome

Kadakia

Helman

Schwedhelm

et al. 2015

Oral Maxillofac Surg

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Moebius syndrome with total anomalous pulmonary venous connection

Cited by 12 publications

References 9 publications

A family with hereditary congenital facial paresis and a brief review of the literature

A family with hereditary congenital facial paresis and a brief review of the literature

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Examining the genetics of congenital facial paralysis—a closer look at Moebius syndrome

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