After more than 2 decades of experimental and clinical work, fetal surgery is an accepted treatment option for highly selected fetuses with life-threatening anomalies. Fetal lung masses associated with hydrops are nearly 100% fatal. These lesions can be resected in utero if they are predominantly solid or multicystic. Thoracoamniotic shunt placement may be effective in the setting of a single l...

X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspect...

Tracheal agenesis is a rare congenital airway anomaly that usually results in a fatal outcome. The diagnosis is usually made through post-mortem examination. In the current literature, there has been no reported long-term survival although a few reports claimed prolongation of life of several hours to days. This condition is commonly associated with premature birth, polyhydramnios and a male pr...

Background. A prenatally diagnosed fetal anomaly that could compromise the fetal airway at delivery can be managed safely with the ex utero intrapartum treatment (EXIT) procedure. Case. A 26-year-old healthy primigravida was diagnosed during her midtrimester anatomic ultrasound survey with a fetal oropharyngeal cystic structure located at the base of the tongue. The neonatal airway was successf...

introduction: orofacial clefts are among the most common congenital anomalies. patients presenting with orofacial clefts often require surgery or other complex procedures. a cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. the reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...

The Medical Journal of Australia ISSN: 0025729X 15 March 2010 192 6 300-301 ©The Medical Journal of Australia 2010 www.mja.com.au Editorials system, including the considerable expense of provid to screen for, diagnose and terminate pregnancie major congenital anomalies (Down syndrome and defects in particul r). Importantly, some anomalies able, including neural tube defects (70% preventa quate ...

Anomaly of the ossicles is frequently seen in a patient with congenital anomalies of the head or face, such as congenital obstruction of the external ear canal, Treacher Collins syndrome or cephalopathy. Congenital anomaly of the ossicles however is not a rare occurrence even in a patient without anomalies of the head or face. Here, we would present our own experience with six cases of congenit...

Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...