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Congenital facial diplegia

MedGen UID:
163430
•Concept ID:
C0853240
•
Congenital Abnormality; Disease or Syndrome
Synonym: Facial Diplegia, Congenital
 
HPO: HP:0007188

Definition

Facial diplegia (that is, bilateral facial palsy) with congenital onset. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital facial diplegia

Professional guidelines

PubMed

Diagnosis and treatment of speech disorders in children with Moebius syndrome.
Pamplona MDC, Ysunza PA, Telich-Tarriba J, Chávez-Serna E, Villate-Escobar P, Sterling M, Cardenas-Mejia A
Int J Pediatr Otorhinolaryngol 2020 Nov;138:110316. Epub 2020 Aug 15 doi: 10.1016/j.ijporl.2020.110316. PMID: 32829202
Moebius syndrome: clinical features, diagnosis, management and early intervention.
Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF
Ital J Pediatr 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152Free PMC Article
A review of the evaluation and management of velopharyngeal insufficiency in children.
Ruda JM, Krakovitz P, Rose AS
Otolaryngol Clin North Am 2012 Jun;45(3):653-69, viii. doi: 10.1016/j.otc.2012.03.005. PMID: 22588042

Recent clinical studies

Etiology

Caries Experience in Individuals with Moebius Syndrome.
Castro T, Ortega AO, Mussi MC, Braga MM, Gallottini M
Pediatr Dent 2016 Jan-Feb;38(1):68-71. PMID: 26892218
Brainstem dysgenesis during the neonatal period: diagnosis and management.
Castilla-Fernández Y, Boix H, Macaya A, Vázquez E, Gratacòs M, Roig-Quilis M
J Perinat Med 2013 Jul;41(4):445-53. doi: 10.1515/jpm-2012-0261. PMID: 23348216
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).
Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M
Arch Dis Child 1994 Sep;71(3):221-7. doi: 10.1136/adc.71.3.221. PMID: 7979495Free PMC Article
Electrophysiologic studies in an infant with Möbius syndrome.
Hatanaka T, Yoshijima S, Hayashi N, Owa K, Suehiro Y, Shinomiya K
J Child Neurol 1993 Apr;8(2):182-5. doi: 10.1177/088307389300800213. PMID: 8389390
The spectrum of congenital facial diplegia (Moebius syndrome).
Sudarshan A, Goldie WD
Pediatr Neurol 1985 May-Jun;1(3):180-4. doi: 10.1016/0887-8994(85)90061-x. PMID: 3880403

Diagnosis

Caries Experience in Individuals with Moebius Syndrome.
Castro T, Ortega AO, Mussi MC, Braga MM, Gallottini M
Pediatr Dent 2016 Jan-Feb;38(1):68-71. PMID: 26892218
Brainstem dysgenesis during the neonatal period: diagnosis and management.
Castilla-Fernández Y, Boix H, Macaya A, Vázquez E, Gratacòs M, Roig-Quilis M
J Perinat Med 2013 Jul;41(4):445-53. doi: 10.1515/jpm-2012-0261. PMID: 23348216
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).
Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M
Arch Dis Child 1994 Sep;71(3):221-7. doi: 10.1136/adc.71.3.221. PMID: 7979495Free PMC Article
The spectrum of congenital facial diplegia (Moebius syndrome).
Sudarshan A, Goldie WD
Pediatr Neurol 1985 May-Jun;1(3):180-4. doi: 10.1016/0887-8994(85)90061-x. PMID: 3880403
Association of isolated adrenocorticotropin deficiency with a variety of neuro-somatic abnormalities in congenital facial diplegia (Moebius) syndrome.
Koide Y, Yamashita N, Kurusu T, Kugai N, Kuzuhara S, Fujita T, Itakura M, Kawai K, Yamashita K
Endocrinol Jpn 1983 Aug;30(4):499-507. doi: 10.1507/endocrj1954.30.499. PMID: 6323150

Prognosis

Brainstem dysgenesis during the neonatal period: diagnosis and management.
Castilla-Fernández Y, Boix H, Macaya A, Vázquez E, Gratacòs M, Roig-Quilis M
J Perinat Med 2013 Jul;41(4):445-53. doi: 10.1515/jpm-2012-0261. PMID: 23348216
Electrophysiologic studies in an infant with Möbius syndrome.
Hatanaka T, Yoshijima S, Hayashi N, Owa K, Suehiro Y, Shinomiya K
J Child Neurol 1993 Apr;8(2):182-5. doi: 10.1177/088307389300800213. PMID: 8389390
The spectrum of congenital facial diplegia (Moebius syndrome).
Sudarshan A, Goldie WD
Pediatr Neurol 1985 May-Jun;1(3):180-4. doi: 10.1016/0887-8994(85)90061-x. PMID: 3880403

Clinical prediction guides

Caries Experience in Individuals with Moebius Syndrome.
Castro T, Ortega AO, Mussi MC, Braga MM, Gallottini M
Pediatr Dent 2016 Jan-Feb;38(1):68-71. PMID: 26892218
Brainstem calcification in Möbius syndrome.
Dooley JM, Stewart WA, Hayden JD, Therrien A
Pediatr Neurol 2004 Jan;30(1):39-41. doi: 10.1016/s0887-8994(03)00408-9. PMID: 14738949

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