[Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas].
Jacobsen syndrome is a rare chromosomal disorder due to terminal 11q deletion. Prominent features are growth and psychomotor retardation, trigonocephaly and a characteristic facial dysmorphism, but many different abnormalities have been reported. We present the case of a preterm male. Prenatal ultrasonography was suspicious for duodenal atresia. At birth, the boy presented the craniofacial features typical of Jacobsen syndrome, together with diffusely spread petechiae and talipes equinovarus. Hemogram revealed pancytopenia. Ultrasound examination showed left renal agenesis and confirmed the duodenal atresia. Cerebral computed tomography scan, electroencephalogram and cardiac studies showed no abnormalities. Annular pancreas was found during surgery to correct the duodenal atresia. The karyotype was 46,XY,del(11)(q23.2 --> qter), which confirmed Jacobsen syndrome.A wide spectrum of clinical features is described in Jacobsen syndrome, with phenotype-karyotype correlation. This is the first report of duodenal atresia and annular pancreas.
Departamento de Pediatría, Servicios de Neonatología, Hospital Central de Asturias, Oviedo, España.
N
N
Fernández González
S
S
Prieto Espuñes
A
A
Ibáñez Fernández
B
B
Fernández Colomer
J
J
López Sastre
J
J
Fernández Toral
D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003025:Clubfoot / Q000150:complications / Q000235:genetics; D003394:Craniofacial Dysostosis / Q000150:complications / Q000235:genetics; D004386:Duodenum / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007668:Kidney / Q000002:abnormalities; D008297:Male; D010179:Pancreas / Q000002:abnormalities*; D010198:Pancytopenia / Q000150:complications / Q000235:genetics; D011596:Psychomotor Disorders / Q000150:complications / Q000235:genetics; D013577:Syndrome