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. 2022 Jul 30;49(4):517-522.
doi: 10.1055/s-0042-1751107. eCollection 2022 Jul.

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

Affiliations

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

Victor Z Zhu et al. Arch Plast Surg. .

Abstract

Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.

Keywords: Adams-Oliver syndrome; genetics; pseudotail; vestigial tail.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Patient phenotypic findings. ( A ) Full body, ( B ) face, ( C ) cutis aplasia congenita, ( D ) transverse upper limb defects, and ( E ) transverse lower limb defects.
Fig. 2
Fig. 2
Lumbosacral appendage, preoperatively.
Fig. 3
Fig. 3
T1 axial and sagittal magnetic resonance imaging (MRI) images of the lumbosacral appendage. ( A ) Axial and ( B ) sagittal.
Fig. 4
Fig. 4
Lumbosacral appendage, 4 months postoperatively.

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