Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A

A 7-year-old boy, first born to healthy nonconsanguineous parents presented with stiffness of both upper and lower limbs, and frequent falls since 2 years of age. Stiffness involving the facial muscles, in the form of inability to open his mouth and poor facial expressions, was noticed since 4 years of age. He also had difficulty in climbing stairs and getting up from a squatting position. On examination, his weight was 13 kg (<−3 z score, World Health Organization [WHO]); height was 94.5 cm (<−3 z score, WHO) and head circumference was 48 cm (−1 to −2 z score, WHO).

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