Contributed by: Dr. Prajnya Ranganath  
  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