Seckel syndrome: in a two and a half months old male presenting at tertiary care hospital in Karachi

ABSTRACT

Seckel syndrome is a rare disease, with autosomal recessive mode of inheritance. Clinically manifests as intrauterine and postnatal growth retardation along with microcephaly, receded forehead, micrognathia, hypoplastic ears and mental retardation. Here we present a case of two and a half months old boy with four days history of loose stools and fever with facial dysmorphism and growth retardation of prenatal onset. This case is notable as detailed physical examination in patients leads to early diagnosis of the disease