Adams-Oliver Like Syndrome with Novel CNS Anomalies: A New Syndrome?
We report on a one-year-old boy with multiple congenital anomalies involving the limbs and scalp consistent with Adams-Oliver syndrome (AOS). This child presented with hypotonia, severe developmental delay, terminal transverse limb defects involving all four limbs, sparse scalp hair, prominent occiput, sparse eyebrows and eyelashes, with mild bilateral ptosis and dysmorphic facies. He was also noted to have hypospadias with chordee, GER and unusual, previously uncharacterized radiographic CNS anomalies. Specific MRI findings involve both supratentorial and infratentorial compartments and include midline CNS abnormalities with partial agenesis of the corpus callosum, cortical neuronal migration defects, pontine hypoplasia and cerebellar abnormalities with clefting of the vermis and incomplete arborization. There are no apparent neurovascular defects.
Our patient is the only child born to a non-consanguineous couple of Italian descent. There was no history of prenatal teratogen exposures. There is no family history of inherited conditions. This child has a normal karyotype, does not harbour any cardiac defect and has no history of seizure.
Review of the literature revealed one report by Amor et al.,(2000) of a sib pair of consanguineous union with Adams-Oliver-like syndrome plus polymicrogyria, global development delay and seizures. In general, there is a paucity of data describing neuroradiological findings associated with AOS, in particular those involving the infratentorial compartment and midline brain defect. There is currently no clinical genetic testing available for AOS, as the precise genetic basis of this condition has yet to be elucidated.
In summary, we present a case of a male infant with striking complex CNS anomalies, developmental delay and hypospadias in addition to Adams-Oliver-syndrome-like limb defects. We believe this may represent a new syndrome.