Anus associated malformations

Prenatal ultrasound often fails to provide an early diagnosis, and the large, sometimes septated, fluid-filled pelviabdominal mass is often mistaken for the urinary bladder. After delivery the diagnosis of cloacal malformation is made when, in addition to an absent anus, only one perineal orifice is found between the labia (Fig. 7.23). These patients need urgent referral to the pediatric radiology department for early definition of the abnormal anatomy and detection of associated malformations or potential life-threatening complications. 

Moore TC, Lawrence EA (1952) Congenital malformations of the rectum and anus associated anomalies encountered in a series of 120 cases. Surg Gynecol Obstet 95 281-284 Murphy F, Puri P,Hutson JM et al (2006) Incidence and frequency of different types, and classification of anorectal malformations. In Holschneider AM, Hutson JM (ed) Anorectal Malformation in Children. Springer, Heidelberg 163-184... 

Periodic screening US is reconunended in children with characteristics that are known to be associated with renal benign or malignant tumors (aniridia, hemihypertrophy, Drash syndrome, Beck-with-Wiedemann syndrome, tuberous sclerosis). In patients with malformation known to be associated with renal abnormality (the VATER association, imperforate anus, internal genital anomalies, Fanconi anemia), one postnatal US examination is recommended. However, abnormal external ears, unique umbilical artery, hypospadias, and undescended testis have not been proven to be associated with renal malformation and do not represent indications for renal screening (Currarino et al. 1993). 

The term imperforate anus includes all kinds of anorectal malformations from covering of the anus by a thin skin membrane to high anorectal atresia - with or without a fistula, into the urethra or bladder - and to cloacal anomalies in females. It is well known that a high proportion of patients with imperforate anus have this maldevelopment in association with anomalies of one or several other... 

Duhamel (1961) reported that the most frequent malformations associated with imperforate anus are just those that one finds constantly in the... 

---