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Aplasia/hypoplasia involving bones of the lower limbs

MedGen UID:
870588
•Concept ID:
C4025037
•
Finding
Synonyms: Absent/small lower limb bones; Absent/underdeveloped lower limb bones
 
HPO: HP:0006493

Definition

Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. [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

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

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