OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs

We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD ) and Joubert syndrome. The index patient was the 5th child of healthy nonc onsanguineous Turkish parents. At birth this female patient had large hydro cephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of f ingers, normal toes, and hypotonia, Cranial MRI showed hydrocephalus and Da ndy-Walker malformation. The child had no psychomotor development, was unab le to swallow and had severe seizures. She died at 2 months of recurrent ap neic episodes, At birth the brother of the index patient showed prominent f orehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polyd actyly of the hands and feet, and broad halluces, He had an abnormal breath ing pattern with phases of tachypnea and apnea, Cranial MRI showed hydrocep halus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum, Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmu s, (C) 2000 Wiley-Liss, Inc.