Fig. 1: Clinical findings of our patients. | Journal of Human Genetics

Fig. 1: Clinical findings of our patients.

From: New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder

Fig. 1

Photographs of lower limbs for A Patient 1 at the age of 3 months, B Patient 2 at the age of 1 month C Patient 5 at the age of 15 months showing different severity of arthrogryposis. Frontal facial photographs of D, E Patient 1 and Patient 2 at the same ages showing myopathic facial expression with open mouth, high forehead, and full cheeks. The mildly affected F Patient 3 had minor facial dysmorphism with wide nasal bridge and low hanging columella

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