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October 1971

Picture of the Month

Author Affiliations

From the Nassau County Medical Center, East Meadow, Long Island, NY.

Am J Dis Child. 1971;122(4):341-342. doi:10.1001/archpedi.1971.02110040125012

Denouement and Discussion 

Chondrodystrophia Calcificans Congenita (Conradi's Syndrome, Chondrodysplasia, Epiphysialis Punctata, Stippled Epiphyses) 

Manifestations  The major manifestations consist of frontal bossing, hypertelorism, saddle nose, high arched palate, short neck, short stature, and skeletal abnormalities. The skeletal findings include shortening of extremities and stippling of the epiphyses resulting from punctate calcific deposits in the infantile cartilaginous skeleton, found most frequently in the epiphyses and joint capsules and in the cartilages of the trachea, larynx, hyoid bone, and vertebral disks. The proximal portion of the lower limbs are most frequently involved although the humeri are also shortened. Other skeletal abnormalities include brachydactyly, flexion contractures, congenital dislocation of the hip, asymmetrical vertebral bodies, kyphosis, scoliosis, and genu valgum.In the newborn, the skin is hyperkeratotic with underlying erythema which is followed by follicular atrophoderma. Other skin manifestations include large pores, ichthyotic hyperkeratosis, seborrheic dermatitis, and exfoliative dermatitis. The hair may be sparse and coarse with uneven diameters. Abnormalities of the head other than frontal bossing include craniosynostosis,

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