STRINGENT DELINEATION OF PALLISTER-HALL SYNDROME IN 2 LONG SURVIVING PATIENTS - IMPORTANCE OF RADIOLOGICAL ANOMALIES OF THE HANDS

We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmo rphism (downward slanted palpebral fissures, ptosis, microretrognathia ), cleft epiglottis, and developmental delay. The younger child had st enosis of the pulmonary arteries, complex urogenital malformations, an d anal atresia. In the oldest patient, the hamartoma caused precocious puberty of the central type, combined with complete hGH deficiency. B oth patients showed bony anomalies of the extremities: variable proxim al synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangis m, syndactyly, and nail hypoplasia. Together with the absence of anoma lies of cholesterol metabolism, a combination of oral frenula, larynge al malformations, digestive abnormalities, intercalary polysyndactyly, generalised brachytelephalangism, and nail hypoplasia should allow th e delineation of Pallister-Hall syndrome, even when a CNS tumour is ab sent. The radiological abnormalities are helpful in differentiating Pa llister-Hail syndrome from the other syndromes in which hypothalamic h amartoblastoma is observed. This is of major importance for genetic co unselling, since Pallister-Hail syndrome may be a dominantly inherited disorder, thus contrasting with most of the other disorders with the CAVE phenotype, which are recessively inherited.