Dr. Dhanya P. G., first-year postgraduate scholar of the Department of Pathology at the Amrita School of Medicine recently won the best poster award at the 68th Kerala Chapter Meeting of the Indian Association of Pathologists and Microbiologists.

Her poster titled Agnathia – Otocephaly Complex with URSMS presented a rare case of otocephaly-agnathia complex with urorectal septal malformation sequence in a 17-week old fetus.

Otocephaly is a rare and often lethal, nonfamilial syndrome characterized by partial or complete absence of the lower jaw (agnathia), venteromedial displacement of external ear structures (synotia), small mouth (microsomia) and severe hypoplasia of the tongue (aglossia). The condition is lethal due to ventilatory problems.

Association of otocephaly with urorectal septal malformation sequence (URSMS) is an unusual presentation. URSMS is a severe form of anorectal anomaly characterized by the absence of perineal (anal, urinary and for females, vagina) openings.

“Such a case has never been reported in literature earlier,” noted Dr. Dhanya.

She elaborated further on the case.

“The pregnancy of a 37-year-old expectant mother was medically terminated due to suspected early developmental stage malformation of the fetus along with the presence of an intra-abdominal cystic mass. The marked decrease in amniotic fluid, as a result of malformation, made prenatal diagnosis by ultrasonography difficult.

“Hence a meticulous fetal autopsy led to the final diagnosis of otocephaly-agnathia complex with urorectal septal malformation sequence. The fetus had facial defects along with urinary tract and cloacal malformations.”

The poster emphasized that while occurring together with otocephaly, URSMS is difficult to diagnose prenatally.

“There is no laboratory test to diagnose this condition. Even though some of the defects found in URSMS can be observed through ultrasound, it is difficult to make a definitive diagnosis of this condition prenatally. Here, the case was diagnosed postnatally by autopsy after the medical termination of pregnancy.”

“Fetal autopsy has the potential in diagnosing conditions and it can serve as an aid in prediction of future pregnancy risks. To arrive at the diagnosis during autopsy, the pathologist should have an open mind to explore the morphology and correlate the findings,” stated the scholar.

Currently pursuing post-graduation studies in Clinical Pathology, Dr. Dhanya joined Amrita in 2011. She acknowledged the guidance and support received from her mentors, Dr. Annie Jojo, Dr. Sheela Nampoothiri, Dr. Laxmi Padmanabhan and Dr. Sreekala Sreehari.

March 12, 2012
School of Medicine, Kochi