Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: A variant of the Adams‐Oliver syndrome?

Abstract

Aplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams-Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eyes, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams-Oliver syndrome, or a previously unrecognized syndrome involving vascular disruption.

Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome

“…The IUGR and intracranial densities resembled the findings in intrauterine (TORCH) infections; however, no infectious agent could be detected. The presence of several previous reports of AOS, IUGR, and intracranial densities [Orstavik et al, 1995;Romani et al, 1998;Berger, 2001] suggests that this presentation may be under-appreciated, possibly due to a lack of indication for brain imaging in many cases.…”

Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant

“…DISCUSSION AOS was first described as a syndrome of scalp defects and distal limb reduction with probable autosomal dominant inheritance [Adams and Oliver, 1945]. Three subsequent reports in recent press have suggested the potential existence of an AOS-variant with autosomal recessive inheritance [Orstavik et al, 1995;Amor et al, 2000;Temtamy et al, 2007]. A review of published AOS cases reveals five additional reports wherein autosomal recessive inheritance is likely [Kahn and Olmedo, 1950;Koiffmann et al, 1988;Klinger and Merlob, 1998;Tekin et al, 1999;Unay et al, 2001].…”

“…Only one sib additionally displayed aplasia cutis with reduction defects of the toes while the other sib showed no scalp aplasia but brachydactyly and prominent cutaneous vasculature. Orstavik et al [1995] reported a sib pair with aplasia cutis in combination with not only transverse limb anomalies but also central nervous system anomalies including agenesis of the corpus callosum, cerebral atrophy, and bilateral periventricular calcifications. The parents were nonconsanguineous.…”

Iloprost is a Useful Therapy for Adams-Oliver Syndrome with Eisenmenger Syndrome

“…A variety of associated symptoms have been reported, including cutis marmorata teleangiectatica, central nervous system abnormalities, and cardiac malformations. Variable expressions of this syndrome have been reported in the literature (1)(2)(3)(4)(5) .…”