Abstract
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
Highlights
Pyknodysostosis, first described in 1962 by Maroteaux and Lamy, is a rare autosomal recessive disorder characterized by post natal onset of short limbed short stature and generalized hyperostosis.[1]
Hearing impairment with pyknodysostosis has not been presented as an association which is the illustrative interest in our case
Our patient is a product of consanguineous marriage which supports the autosomal recessive trait of this disorder
Summary
Pyknodysostosis, first described in 1962 by Maroteaux and Lamy, is a rare autosomal recessive disorder characterized by post natal onset of short limbed short stature and generalized hyperostosis.[1]. Introduction Pyknodysostosis, first described in 1962 by Maroteaux and Lamy, is a rare autosomal recessive disorder characterized by post natal onset of short limbed short stature and generalized hyperostosis.[1] These patients have acroosteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic.[2] Other features include diffuse osteosclerosis with tendency to transverse fractures, flattened and grooved nails, wrinkled skin, kyphosis and scoliosis, persistence of fontanelles, delayed closure of sutures, presence of wormian bones, absence of frontal sinuses and obtuse mandibular gonial angle with relative mandibular prognathism are common features.[3,4] The intellectual and sexual development is usually normal in these patients.
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