| Contributed by: Dr. Prajnya Ranganath | ||
| Email: prajnyaranganath@gmail.com | ||
| This 6 year old boy, the second offspring of third degree consanguineous parents, presented with progressively increasing deformity of bilateral elbow and interphalangeal joints and nodular swellings on the plantar aspect of both feet, of 3 months duration. Radiograph of the hand and wrist showed typical findings as shown below. Identify the condition. |
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| Answer to PhotoQuiz 28 |
| Carpenter syndrome 1 (OMIM #201000) |
| Carpenter syndrome 1 is also known as acrocephalopolysyndactyly II. It is characterized by craniosynostosis involving the sagittal, lambdoid and coronal sutures in variable proportions. The facies is characteristic with acrocephlay/turricephaly or sometimes clover leaf skull, telecanthus and midface hypoplasia. The intelligence is very variable with an IQ range of 50-100. The limb abnormalities include brachydactyly, syndactyly, clinodactyly and pre- and post-axial polydactyly. Brachymesophalangy or agenesis of middle phalanges is observed on radiography. It is an autosomal recessive condition caused by mutations in the RAB23 gene. Carpenter syndrome 2 has features of Carpenter syndrome 1 as well as right-left laterality defects and occurs due to mutations in the MEGF8 gene. |
| Correct responses were given by: |
| 1. Rekha Gupta, Jaipur |
| 2. Mala Misra, Amsterdam |
| 3. Bharat Ramamurthy, Bengaluru |
| 4. Ravi Goyal, Kota, Rajasthan |
| 5. Atanu Kumar Dutta, Vellore |
| 6. Arun Prasad, Chennai |