Adams‐Oliver syndrome revisited

Abstract

The occurrence of Adams-Oliver syndrome in a patient from the same geographic area as the first reported kindred led to follow-up of the original family, and to a survey of the literature. Of 81 cases in 32 families, there is an approximately equal distribution between sexes (38 males: 43 females). Vertical transmission in at least 8 families is consistent with autosomal dominant inheritance. The phenotype is variable with a range of mild-to-severe defects of the scalp and/or underlying bone. Despite large defects of the cranium, central nervous system abnormalities have not been found and intellectual development appears to be normal. Limb defects are usually limited to the digits, but may involve the long bones and are entirely absent in some obligate carriers of the gene. Cutis marmorata and tortuous, dilated scalp veins have been reported in association with the major head and limb defects, but also in isolation as a forme fruste phenotype. Thus, there is a broad range of variable expression ranging from cases with lethally hemorrhagic cranial defects and/or severe limb malformations, to patients without any apparent manifestations. Despite a phenotypic resemblance to isolated aplasia cutis congenita and to the syndrome of terminal transverse limb defects, Adams-Oliver syndrome appears to be causally distinct. While the underlying pathophysiologic mechanism remains unknown, it can be speculated that cranial vertex defects and malformations of the limbs represent field defects resulting from impaired circulation in "watershed" areas during a critical period of development.

Insights into the biological functions of Dock family guanine nucleotide exchange factors

“…The AOS is an inherited heterogeneous disorder where patients are afflicted with a range of aplasia cutis congenita, terminal transverse limb defects, and other varying malformations (Whitley and Gorlin 1991). Recent exome sequencing of three unrelated AOS patients identified two mutations in DOCK6 and a truncating mutation in ARHGAP31 that may explain the molecular basis of this disease (Shaheen et al 2011;Southgate et al 2011).…”

Adams-Olıver syndrome: A case report

“…Since then, AOS has shown variations from the mildest form of aplasia cutis congenita to skull defects at birth and denude wide areas on the skin to limb reduction defects and cutis marmorata telangiectatica congenita 6 . Mortality is low in patients with AOS, representing 20% of known patients.…”

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

“…The full spectrum of observed defects ranges from hypoplastic nails, cutaneous syndactyly, transverse reduction defects, polydactyly, and brachydactyly (9) . More severe defects include absence of the complete hand or foot or virtual limb (2,3) . Our patient showed right and left lower limb involvement.…”