A rare skeletal dysplasia

Question :
Prashant Patil, Pallavi Saple
Department of Pediatrics, Cama and Albless Hospital andGrant Medical College, Mumbai.

Address of correspondence: Dr Prashant Patil, NICU, Department of Pediatrics, Cama and Albless Hospital, Mumbai -400001. Email: drprashant1981@gmail.com

A term female neonate was delivered by cesarean section with birth weight of 2.6 kg with APGAR at 1min 3 and at 5min 7. Examination revealed short bowed legs, bell shaped chest, soft cleft palate, distinctive flattened facies, bilateral talipus equinovarus, pretibial pits and multiple café au lait spots and hepatosplenomegaly. Infantogram showed telephone handle appearance of long bones, flat vertebral bodies. Abdominal ultrasound showed hepatosplenomegaly. Karyotyping revealed 46XX. Patient died on day 6 of respiratory insufficiency.
What is the diagnosis_?
Expert Opinion :
Campomelic dysplasia. It is a rare autosomal dominant congenital short limbed dwarfism characterized by congenital bowing of long bones associated with skeletal and extra skeletal features like pretibial pits, hypoplastic lungs, malformations of cervical spine, heart, and kidneys. Characteristic feature is male to female sex reversal. It is caused by mutations in the SRY related gene SOX9. It has almost fatal outcome.

Funding: - none

Contribution of each author: Both authors were involved in diagnosis and management of patient. PP was involved in preparation of manuscript. PS will act as guarantor of the paper.

E-published: January 2010. Vol 7 Issue 1 Art No. 7

Correct Answers : yes  10%

Last Shown : Jan 2010
ask doctor
Ask a Doctor
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.