Marshall-Smith syndrome is a rare disorder characterized by accelerated skeletal maturation, bullet-shaped proximal and middle phalanges, dysmorphic facial features, and failure to thrive, and is often associated with mental retardation of variable degree. We describe an 8-month-old female with this syndrome, who has a hypoplastic corpus callosum and extreme upper airway obstruction requiring tracheostomy. Also, we review the previous reports of this syndrome since 1971 (Marshall et al., 1971).In 1971, Marshall et al. described two infants with a new growth disorder characterized by accelerated skeletal maturation, bullet-shaped proximal and middle phalanges, dysmorphic facial features and failure to thrive. The association, already observed during the neonatal period, of hypotonia, a peculiar face with prominent forehead, prominent eyes, blue sclerae, upturned nose, long philtrum and micrognathia is suggestive of this syndrome and should lead the clinician to a skeletal survey and evaluation of skeletal maturation. Since then, additional cases have been reported and have established the Marshall-Smith syndrome as a distinct entity from other syndromes with advanced skeletal maturation. This report presents a new case of this rare syndrome. CASE REPORTThe patient was the first child of a 25-year-old mother (gravida 2, abortion 1). The father was 57 years old, and the family history was otherwise unremarkable with no consanguinity. During pregnancy, repeated abdominal ultrasound demonstrated polyhydramnios and ventriculomegaly. At 36 weeks of gestation, a female infant was born by cesarean section due to cephalopelvic disproportion. Birth weight was 2.5 kg (-0.2

A rare case of sirenomelia with its autopsy findings is reported. The 1 I88 g infant was delivered by cesarean section at the 36th week of gestation. and died at 3 h of life. Physical and pathologic findings included sirenomelia ( a single lower extremity mass), lung hypoplasia, bilateral renal agenesis. blind-ending colon, severe deformity of the bony pelvis. an imperforate anus, absence of the bladder, and a single umbilical artery. Because of the difficulty in determing the sex of the infant, PCR directed against the SRY gene was performed. The PCR-based sex determination is a rapid technique in patients with ambiguous genitalia.