A Case of Pycnodysostosis with Bilateral Choanal Atresia

Objectives: Pycnodysostosis is an uncommon, autosomal recessive condition characterized by short stature, bone fragility with osteosclerosis, acroosteolysis of the distal phalanges, delayed suture closure, obtuse mandibular angle, prominent eyes, and brachydactyly. Here, we describe a case of pycnodysostosis with bilateral choanal atresia in addition to previously described features which have not been reported in literature before.
Method: A 23-year-old woman consulted to us for genetic assessment before an operation for bilateral choanal atresia. Detailed physical examination was performed and pedigree was analyzed. The patient was seen by several departments including neurosurgery, endocrinology, and radiology.
Results: The clinical and laboratory examinations revealed short stature, dysmorphic facial features, metopic craniosynostosis, unilateral conductive hearing loss, open cranial sutures, and sandal gap deformity. Her mental status seemed appropriate for her age. Pedigree analysis showed autosomal recessive pattern with two similar individuals. Radiologic findings were metopic craniosynostosis, open cranial suture, acroosteolysis, sclerosis of vertebral bodies, and Madelung deformity of the forearm, all of which were supported by the diagnosis pycnodysostosis.
Conclusion: The patient was diagnosed with pycnodysostosis both clinically and radiologically. Genetic counseling was performed. Although its incidence is low, pycnodysostosis is relatively common in Turkey because of the high consanguinity rate. Hence, clinicians who work in countries with a high consanguinity mating rate should consider pycnodysostosis as a differential diagnosis in patients with short stature and skeletal findings.