Isotretinoin-Like Syndrome

Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.

Epidemiology

It has been described in six male patients, three of them being sibs born to nonconsanguineous parents.

Clinical description

It is characterized by the same anomalies as those described after maternal treatment with the drug isotretinoin (a vitamin A analog used for treatment of acne): malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities).

Etiology

The etiology is unknown.

Diagnostic methods

Diagnosis may be suspected in patients with a conotruncal heart and ear anomalies. Computed tomography of the temporal bone may reveal agenesis of the external auditory canals and bilateral ossicular chain abnormalities.

Antenatal diagnosis

Prenatal diagnosis may be performed by ultrasonography with careful examination of facial and cardiac structures.

Genetic counseling

As the syndrome has only been reported in males, X-linked recessive inheritance is possible, but autosomal recessive inheritance cannot be ruled out.

Prognosis

Survival may be influenced by the severity of the heart defect and no data are available on long term prognosis.