Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less than 50 cases.
Method: A case considered to have acrodysostosisis discussed regarding clinical and laboratory findings.
Results: A 12-year-old male patient was referred due to short hands and feet. These complaints were present since birth without a history of regular drug use or major disease. Motor and mental development was delayed compared to his peers. His parents were not relatives but from the same village. Physical examination disclosed followings: weight 45 kg (0.50 SDS), height 143.7 cm (−0.83 SDS), synophrys, arched eyebrows, low-set ears, and small squared hands. Upper/lower segment ratio was normal (0.95). Optic atrophy was bilateral but predominantly affected the left side. Skeletal survey was normal except short tubular bones in hands and feet and cone-shaped epiphyses. Calcium was 9.5 mg/dl, phosphorus 6 mg/dl, alkaline phosphatase 304 IU/l, parathormone 303 pg/ml, 25 (OH) vitamin D 22.4 ng/ml, thyroid-stimulating hormone 11.5 mIU/ml, fT4 1.02 ng/dl, fT3 4.7 pg/ml, and anti-thyroid peroxidase and anti-thyroglobulin antibodies negative. Thyroid ultrasonography revealed a volume of 2.79 ml (−1.52 SDS) and low echogenicity but no nodule. Bone age was compatible with chronological age. L-thyroxine 50 μg per day were administered. In our patient who had both parathormone and thyroid hormone resistance, the heterozygous cytosine-to-thymidine mutation was identified in PRKAR1A gene (c.1101C3T).
Conclusion: Acrodysostosis should be kept in mind and appropriately evaluated when hormone resistance is detected in cases who presented with small hands and feet as well as pseudohypoparathyroidism.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology