Stüve-Wiedemann Syndome (SWS) is a rare neuromuscular autosomal-recessive bent-bone dysplasia of prenatal onset. It is characterized by congenital musculoskeletal anomalies, dysautonomia with a tendency toward hyperthermia, intrauterine growth restriction and frequent death in infancy. The objective is to report the first case of SWS from a consanguineous family in Aseer Region, Kingdom of Saudi Arabia. A newborn male baby was referred to the Pediatrics Department in Aseer Central Hospital, Abha from the "Khamis Mushait Maternity and Children" Hospital. Antenatal ultrasonography of the baby revealed deformity and shortening of both femurs. At birth, respiratory distress syndrome was the major concern and he was having intermittent unexplained hyperpyrexia. His weight was on the 75th centile, length below the 3rd centile and head circumference on the 75th centile. Examination showed expressionless face associated with typical pursed appearance of the mouth, blepharophimosis, multiple joint contractures and overlapping fingers. Plain x-ray of both femurs and upper limbs showed epiphyseal dysplasia of the capital femoral epiphyses, hypoplastic ilea, horizontally dysplastic acetabula, coxa vara, shortening of the femoral necks, broad femora and tibiae with bilateral but asymmetrical degrees of mild bowing. Chest radiogram showed a narrow upper thoracic cage but with normal heart borders. DNA analysis revealed a homozygous c.1258C>T transition in exon 10 of the LIFR gene. This change converts a codon for glutamine (CAA) to a termination codon (TAA), which is consistent with the diagnosis of StuveWiedemann syndrome. The newborn patient was admitted to the neonatal intensive unit. Mechanical ventilation was started for 11 days. The infant was discharged on home oxygen therapy with regular follow ups in the outpatient clinic.
Key words: Stüve-Wiedemann Syndrome, prenatal diagnosis, ultrasonography, consanguinity, management