Otocephaly:Agnathia Microstomia Synotia Syndrome-A Case Repo
Abstract
Otocephaly is characterized by aplasia or hypoplasia of mandible, a small oral fissure and low lying ears at the level of neck usually meeting in the midline. This is due to the failure of migration of the ventral part of the first brachial arch. This rare lethal non familial condition occurs in 1 in 70,000 births. This is the first reported case of otocephaly in Sri Lanka as per our best knowledge, a baby girl born to non-consanguineous parents, who was unable to survive a long time after birth. This case is being reported because of its rarity.

Case Report
A 38 year old mother of two admitted on her 5th pregnancy to Castle Street Hospital for Women, Colombo, Sri Lanka for the assessment of blood sugar series at gestational age of 29+2 weeks. Father is 40 year old and there is no consanguinity. The outcome of her first pregnancy was 2nd trimester miscarriage and other three pregnancies were ended up in spontaneous premature birth at 26th, 30th and 33th week of gestation respectively. Her second baby died on 2nd day of life due to sepsis and there were no gross abnormalities detected. Other two children are healthy at their age of 9 and 4, respectively. This is a spontaneous conception, there is no exposure to teratogens or infection during the pregnancy and she didn’t use any hormonal contraception. Dating scan was done and cervical cerclage was put at 14th week of gestation. She developed gestational diabetes mellitus at 21st week of gestation and since then on diabetic diet with good control of blood sugar. Polyhydramnios was noted on ultrasound scan at 24th week of gestation....

https://www.omicsgroup.org/journals/otocephalyagnathia-microstomia-synotia-syndromea-case-report-2376-127X-1000295.php?aid=84229
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