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Aplasia/Hypoplasia of facial bones

MedGen UID:
1814402
•Concept ID:
C5676838
•
Congenital Abnormality
HPO: HP:0034261

Definition

A developmental defect characterized by absence or underdevelopment of one or more facial bone. [from HPO]

Recent clinical studies

Etiology

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article

Diagnosis

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).
Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356Free PMC Article
Congenital bilateral facial nerve hypoplasia with sensorineural hearing loss: a case report.
Hamizan AW, Yean KT, Abdullah A
Int J Pediatr Otorhinolaryngol 2012 Mar;76(3):455-9. Epub 2012 Jan 26 doi: 10.1016/j.ijporl.2012.01.002. PMID: 22281372

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