Year : 2002 | Volume
: 12 | Issue : 3 | Page : 397--398
Images : Chondrodysplasia punctata
N LN Morthy, I Venkataratnam, RP Rao, MS Rani
Rangaraya Medical College, Govt. General Hospital, Andhra Pradesh 533008, India
N LN Morthy
3-6-779/6 ST No 14, Himayat Nagar, Hyderabad 500029, AP
|How to cite this article:|
Morthy N L, Venkataratnam I, Rao R P, Rani M S. Images : Chondrodysplasia punctata.Indian J Radiol Imaging 2002;12:397-398
|How to cite this URL:|
Morthy N L, Venkataratnam I, Rao R P, Rani M S. Images : Chondrodysplasia punctata. Indian J Radiol Imaging [serial online] 2002 [cited 2020 Sep 22 ];12:397-398
Available from: http://www.ijri.org/text.asp?2002/12/3/397/28492
Chondrodysplasia punctata belongs to a group of cartilagenous dysplasias in which the epiphyseal osseous nucleus is abnormal. Two main forms of this condition are described. The classic, rarer, lethal rhizomelic type with symmetrical involvement which is autosomal recessive and the milder type known as Conradi Hunermann variety which is asymmetrical and autosomal dominant .
A newborn female baby presented with abnormal facial features, hoarse cry, lax skin, dolichocephaly, dysplastic pinna, syndactyly, polydactyly, short limbs and cataract. Cardio-respiratory system was normal.
The clinical features in the milder form are nonspecific like mongoloid face, snub nose, slanting of the eyes, short neck and trunk, cataract and mild skeletal deformities. Dwarfism is not severe.
The severe form is characterised by marked congenital rhizomelic dwarfism, flexion contractures of large joints, small chest and saddle nose deformity. Asymmetrical limb shortening and kyphoscoliosis become prominent with age. Ectodermal changes include alopecia, cataract, ichthyosis and hyperkeratosis. Other features are diminished intelligence, cardiac abnormalities, periarticular calcification and calcifications of cartilaginous structures like nasal septum, trachea and larynx. Atlanto axial dislocations are described in both forms of the condition.
The characteristic feature of the disease is stippled epiphyses seen at birth which varies in sizes from pinhead to a few specks. They can be confined to cartilaginous epiphyses or extend into the soft tissues. The most frequent sites affected are upper and lower femoral, upper tibial, upper humeral, carpal and tarsal, vertebral and pelvic epiphyses. In milder cases the epiphyses become normal with shortening of the femur and humerus. The proximal shortening is more frequent in the upper extremities. The metaphyses are often flared . The changes in spine include blunting of the vertebral bodies, kyphoscoliosis and dens aplasia.
In severe forms the femora and humeri are short and curved asymmetrically at birth. The other features include dislocation of the hip, patellae and coxa vara. The spine shows coronal cleft in lateral radiographs. Bilateral double-layered patella, a form of partite patella is diagnostic of multiple epiphyseal dysplasia.  The pathological findings seen are patchy mucoid degeneration and cystic spaces with irregular vascularization. The zone of provisional calcification is absent. This condition has to be differentiated from multiple epiphyseal dysplasia which is autosomal dominant, seen in older children with irregularity of epiphyses without involvement of the spine. The punctuate stippling is finer than the fragmented epiphyses seen in cretinism or multiple epiphyseal dysplasia 
|1||Sharrard W. J. W. chapter 3: General abnormalities of skeletal development. Paediatric Orthopaedics and fractures 3rd edition. Blackwell scientific publications Cambridge 1993. page 44-51.|
|2||Sheffield EG, double-layered patella in multiple epiphyseal dysplasia; a valuable clue in the diagnosis, J Pediatr Orthop 1988 jan-feb; (1) 123-8.|
|3||Terry R. Yochum, Lindsay J. Rowe chapter 8: skeletal dysplasias. Essentials of skeletal radiology, 2nd edition William and Wilkins, Baltimore 1996, page 592-595|
|4||George B. Greenfield. Chapter 4. Epiphyseal region: Radiology of Bone diseases; 4th edition, J. B. Lippincott com Philadelphia 1986 page 208-212|