فهرست مطالب sarah chamos

Beckwith Wiedemann Syndrome (BWS) is an infrequent inborn malformation that presents with exomphalos, macroglossia and gigantism. In addition, some children with BWS have other features including nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies, heart anomalies, musculoskeletal aberrations, and auditory loss. In this case report a newborn with BWS presenting with macroglossia is reported.

Case report:

 A 26 years old gravida 3 para 2 married women admitted at hospital when she was in labour at 38 weeks’ gestational age (GA). During admission all vital signs were normal as well as fetal status were noted to be normal. She attended three ANC visits, no any abnormality that was detected during prenatal. No history of genetic abnormality in her family, she was treated malaria during pregnancy at 19 weeks GA. In previous obstetrics history she got PPH during her previous pregnancy in the last two years.The women had normal labour. She had spontaneous vaginal delivery of a female baby with 3.3 kg with Apgar score of 7 in 1 minute and 9 in 5 minutes. On postnatal examination the baby was detected to have an abnormal big tongue a case which is known as BWS. The case management was too complicated following its rarity and later the baby died due to complications of hypoglycemia.

Revelation of the etiological mechanisms and use of a laboratory procedure to detect alterations in these disorders may be useful for management of these rare malformations and genetic counseling of the families.