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Mutations in the Fukutin-Related Protein gene ( FKRP ) account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to much milder limb-girdle muscular dystrophy (LGMD2I). In both, weakness and wasting of shoulder-girdle muscles, primary restrictive respiratory and cardiac involvement are classical features. To our knowledge, facial dysmorphic features have not been reported yet. The first woman developed, at age 12, a progressive pelvic weakness. Two biopsies were performed showing a dystrophic pattern with normal classical immunohistochemistry. At age 38, she was confined in a wheelchair and suffered from respiratory insufficiency. She also had a mild cardiomyopathy. As she presented macroglossia, analysis of the FKRP gene was performed and two compound mutations p.Leu276Ile and p.Glu343X were found. The second woman was born of a consanguineous union. From childhood, she had difficulties running and rising from the floor. At 12, she developed a limb-girdle weakness that confined her in a wheelchair at age 26. Vital capacity was normal, as well as US heart exam. Muscular biopsy showed classical dystrophic features with normal immunohistochemistry and Western blot. She had no macroglossia but her face looked alike our first FKRP patient. Indeed, both women presented hypertelorism, large palpebral fissures, depressed nasal bridge, prognathism and thick lips being responsible for a dramatic physical resemblance although they were unrelated. FKRP gene analysis was therefore performed and a homozygous mutation p.Leu276Ile was found. Limb-Girdle weakness associated with macroglossia and calf hypertrophy are classical clues for FKRP gene sequencing. Some mutations have more frequent macroglossia or calf hypertrophy than others. But facial dysmorphia has not been reported in this disease so far. This dysmorphia represent a real diagnosis help in our second patient and should be searched each time a LGMD patient is considered.