Mohsina Noor Ibrahim1, Versha Rani Rai1, Wafa Nisar1, Syeda Qissa Zehra Zaidi1, Maira Riaz, Zubair Khoso1
MACS (Macrocephaly Alopecia Cutis Lexa Scoliosis) syndrome is a rare autosomal recessive connective tissue disorder caused by mutations in the RIN2 gene. This syndrome is characterized by progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair, and skin and joint hyperlaxi...