467 MARSHALL-SMITH SYNDROME: ANDROGEN ABNORMALITIES

[A case of Marshall-Smith syndrome].

Marshall-Smith syndrome (MSS) is a rare clinical disorder, characterized by accelerated skeletal maturation, facial anomalies, failure to thrive and death in early infancy due to respiratory complications. We experienced the difficult airway case with MSS. A 4-year-old boy underwent tenosynovectomy for the snapping finger. Although his upper airway was diagnosed as almost normal on the fiber-op...

Marshall-Smith syndrome: a distinct entity.

Marshall-Smith syndrome: the expanding phenotype.

We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at 5 months of age, careful observation for respiratory complications and failure to thrive was initiated. By 3 1/2 years of age, although our patient had no life threatening respiratory complications...

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. Characteristic features include neurobehavioural abnormalities such as aggressive and self-injurious behaviour and significant sleep disturbances. The majority of patients have a common deletion characterised at the molecular ...

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the cor...