Neonatal Marshall-Smith syndrome.

摘要

Marshall-Smith syndrome (MSS) is a distinctive entity caused by heterozygous mutations in the NFIX gene on chromosome 19pl3.3 (Malan et al., 2010). It is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties secondary to upper airway obstruction, mental retardation and abnormal facies, including a prominent forehead, shallow orbits, blue sclerae, a depressed nasal bridge, and micrognathia (Shaw et al., 2010). Marshall et al. (1971) described the cases of two infants with a new syndrome characterized by accelerated skeletal maturation, failure to thrive, motor delay, and dysmorphic facial features. In this study, we report a new patient with the clinical features of MSS with the additional findings of hypertrophy of the labia minora and clitoris.