A NEW CRANIOFACIAL DISORDER INVOLVING HYPERTELORISM AND MALFORMATIONSOF EXTERNAL NOSE, PALATE AND PITUITARY-GLAND

The aim of the present study was to describe and pathologically evalua te an apparently unreported craniofacial malformation, based on compar ison of the cranial midsagittal components with similar components und er normal developmental conditions. A severely malformed fetus with a gestational age of about 17 weeks underwent whole body and special cra niofacial radiography. Following autopsy dissection, the midsagittal s egment of the cranial base, including the eyes, was radiographed in di fferent projections, Midsagittal tissue blocks were serially sectioned for microscopy. Routine stains and immunohistochemical stains were ap plied,The face was characterized by hypertelorism, absence of external nose but with open shell-like cavities medio-cranially to the eyes, a nd by a palate fused in the midline and with extensive bony ridges lat erally, There was absence of normal nasal cavities, presence of nasal septum and vomer, normal eyes, and nasal ducts covered with nasal muco sa ending blindly in the cartilage. No olfactory bulbs were found, The palatal ridges consisted of bony tissue, The pituitary gland was seve rely malformed and consisted solely of adenopituitary gland tissue, lo cated in its full extent in the pharyngeal mucosa, There was no sella turcica. From a pathogenetic point of view, it is suggested that the n eural crest cells in the frontonasal region of the crest were reduced in amount or late in migration to the midfacial region compared to the neural crest cells to the maxillary region, Therefore, we believe tha t the malformations observed in the nasal placodes and in the pituitar y placode, combined with abnormal migration or abnormal timing of neur al crest cells during the craniofacial development, are important fact ors behind this disorder.