First AD

Second AD

A newborn male is seen with anal atresia.

Isolated anal atresia, which occurs in 1/4-5000 newborns (male>female), denotes a missing or closed off anal opening.  Related embryologic variants include an anal opening that is too small or misplaced, or an absent anal opening with connections of the gastrointestinal tract with the urethra, bladder, or vagina.

VACTERL syndrome criteria are met when  ≥3 of the following findings are noted on physical exam or radiologic work up:

Current thoughts regarding the etiology of this array of abnormalities all implicate defective mesenchymal development, with mitochondrial locus NP 3243 and Sonic Hedgehog thought to be candidate genes underlying the problem.

The inheritance pattern is mostly sporadic, mostly occurring in children born to mothers with diabetes during pregnancy, with chromosomal defects rarely identified in patients suffering from this syndrome. Very rare familial cases have been described. The frequency of this syndrome is 1/10-40,000 newborns.

Minimal workup for this syndrome should include x-rays of the limbs and vertebral column, echocardiogram, upper gastrointestinal series, renal ultrasound, voiding cysturethrogram.

--variant groupings of findings all accompanying extensive lumbar spine/genitourinary/lower gastrointestinal/lower extremity hemangioma.

Chen H. Atlas of Genetic Diagnosis and Counseling. 1

 ed. New York, New York: Springer-Verlag NY. 2006. P 1025-1028.

Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis. 2011; 6: 56. 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3169446/

News

A newborn male is seen with anal atresia. Isolated finding? Or, first clue? 

Anal Atresia in a Neonate