[Intrauterine dwarfism and dysmorfic features. A case of Russel-Silver syndrome].
Russel-Silver syndrome is characterized by severe intrauterine growth retardation and is the most characteristic intrauterine dwarfism syndrome. In addition to short stature, low birth weight and reduced postnatal growth, this syndrome is characterized by features such a relative macrocephaly, a typical craniofacial appearance, asymmetry of the body and other abnormalities. Recent studies on developmental delay in these children have shown that most require special education. Attempts to explain the mechanism underlying this condition have been unsuccessful. Recent studies suggest a genetic cause, mainly uniparental disomy 7, although definitive data are lacking. We report a characteristic case of Russel-Silver syndrome: a newborn with fetal growth retardation, the craniofacial features described by Russel, relative macrocephaly, asymmetry of the body and very low weight increase.
Peinado Garrido
A
A
Servicio de Pediatría. Hospital Clínico San Cecilio. Granada. amunoz@goliat.ugr.es
Borja Pérez
C
C
Narbona López
E
E
Contreras Chova
F
F
Jerez Calero
A
A
Miras Baldó
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001842:Bone and Bones / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D004392:Dwarfism / Q000175:diagnosis*; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome