Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.
Russell-Silver Syndrome (RSS) is a rare cause of pre-natal dwarfism, associated with recognizable dysmorphic features and limb asymmetry. The propositus was a term infant of unrelated Nigerian parents, whose 35-year-old mother had peri-conceptual haloperidol for schizophrenia. Anthropometric values suggested severe prenatal stunting in a term infant with asymmetric "head sparing" intrauterine growth retardation (IUGR). A syndromic consideration of Russell-Silver dwarfism was subsequently predicated on the distinctive dysmorphic craniofacial features of a triangular facial profile with a broad forehead and hypoplastic mandible, right upper and lower limb rhizomelia, clinodactyly of the little fingers, micro-penis, and (unilateral) cryptochidism. Routine care of a small-for-gestational-age infant was pursued, but postnatal growth remained slow (despite adequate caloric provision) until a parent-pressured discharge at 4 weeks. His subsequent demise was said to have occurred "suddenly" 2 weeks post-discharge. Despite the limitations posed by the local paucity of modern investigative tools for genetic disorders, the current case report underscores the diagnostic reality of RSS in a non-white African population. While emphasizing the need for a high index of diagnostic suspicion for congenital malformations and syndromic causes of IUGR in the African sub-region, we suspect a possible etiologic association of haloperidol embryopathy with RSS in the current case. The characteristic features, differential diagnoses, etiologic postulates/current cytogenetic and molecular genetic findings of RSS are fully reviewed in the discussion.
Johnson
A W
AW
Department of Pediatrics & Child Health, University of Ilorin Teaching Hospital, Nigeria. wjohnson@yahoo.com
Mokuolu
O A
OA
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D009549:Nigeria; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000150:complications / Q000175:diagnosis*