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Case Reports
. 2017 Dec 28:6:167.
doi: 10.4103/2277-9175.221861. eCollection 2017.

A Case of Adams-Oliver Syndrome

Minoo Saeidi  1 , Fahime Ehsanipoor  2
Affiliations
Case Reports

A Case of Adams-Oliver Syndrome

Minoo Saeidi et al. Adv Biomed Res. .

Abstract

Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging. No other internal organ involvement was obvious in this patient. Family history was negative for this syndrome. AOS is a multisystem disorder, and so it is crucial to investigate for internal organ involvements.

Keywords: Absence defect of limbs; Adams–Oliver syndrome; aplasia cutis of the scalp.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
The patient presented with scalp defect (a) as well as upper (b) and lower limb (c) anomalies. Skull X-ray revealed bone defects (d). Upper (e) and lower limb (f) X-ray showed absent or short distal phalanges
Figure 2
Figure 2
Focal acrania, extensive chronic subdural collection under the areas of bone defect, and mild pachygyria are evident in computed tomography scan
See this image and copyright information in PMC

References

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