Oro-facio-digital syndrome or Joubert syndrome?

Abstract

We here present two sibs with overlapping features of oro-facio-digital syndromes (OFDI and Joubert syndrome. The index patient is the 4th child of healthy nonconsanguineous turkish parents. At birth the female patient showed large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenulae, cleft palate, hamartomas of the tongue, postaxial polydactyly of the fingers, normal toes, hypotonia and severe retardation. Cranial MR revealed extreme dilatation of the ventricles and Dandy Walker malformation. The child had no psychomotor development, was unable to swallow and manifested severe seisures. The patient died at the age of 2 months from recurrent apnoes. The brother of the index patient was born after an unsupervised pregnancy at term. He had prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridge, retrogenia, large, bilateral postaxial polydactyly of the fingers and toes, broad halluces. He had an abnormal breathing pattern with phases of tachypnoe and apnoe. Cranial MR revealed hypoplasia of the cerebellar vermis, Dandy-Walker malformation and hypomyelination of the corpus callosum. Renal ultrasound demonstrated multiple small cysts. At the age of 4 months the child was severely retarded and had recurrent seizures. He could not fix and had a mild nystagmus. The oral-facial-digital (OFD) syndromes are a heterogeneous group of disorders characterized by facial, oral and digital anomalies. Other features, like cerebral or cerebellar anomalies are often present, which make it difficult to ascertain whether these cases indicate variable expressivity or represent other entities. Beside these features our patients showed the typical breathing pattern and ocular anomalies of Joubert syndrome suggesting that there may be a continuum between OFD syndromes and Joubert syndrome. We discuss this hypothesis in regard of the data in the literature.