Pyknodysostosis is a rare seclerosing bone disease that has autosomal recessive trait. It is characterized by smallstature, diffuse osteosclerosis with tendency to transverse fractures, acro-osteolysis of fingers, with flattened andgrooved nails. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absenceof frontal sinuses and obtuse mandibular gonial angle with relative mandibular prognathism. We report a 9-yearoldgirl having features of pyknodysostosis with progressive hearing impairment, in the form of otosclerosis.Keywords: Craniofacial abnormalities; Hearing impairment; Otosclerosis; Pyknodysostosis; Seclerosing bone diseases.DOI: 10.3329/jom.v11i2.5475J MEDICINE 2010; 11 : 202-204

Joubert's syndrome is an autosomal recessive congenital disorder having characteristic clinical features like hypotonia, ataxia, developmental delay and many neurological problems. Other variable features include retinal dystrophy, cystic kidney disease liver fibrosis etc. Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.