Posted October 18, 201014 yr Hello, My friend working in the government general hospital has passed this photo to be presented to the 99 nicu members for their diagnosis. Your help is appreciated and valuable. The baby has been lost to follow up because the parents didn't come for review.
October 19, 201014 yr I have done OMIM searches but have not come up with any good diagnosis. Have done various searches related to the ambiguous genitals / intersex conditions. Do you have more details of the clinical features: is there artrogryphosis of the knees? bilateral pes equinovarus? is the karyotype available? My principal thoughts go like this: is this a male genotype and aphallia, or a female genotype with sever virilization?
October 19, 201014 yr Seeing a malformation like this for the first time. Where is the uretheral meatus? Could it be a malformation of the penis (Differential Diagnosis : -Lympgangioma (? Hemolymphangioma) -Cavernous Hemangioma (?) -Neurofibroma -Dermatofibroma )? A CT Scan of the Pelvis and genitalia may throw some light on the anatomy. Hopefully we can trace this baby and treat him(?).
October 20, 201014 yr Author thanks for the response. Indeed the baby had arthrogryposis and varus deformity. Baby had microcephaly. These are the other information which i gleaned . I am sure Stefan has something on his sleeve. Waiting for the diagnosis dr.r.selvan erode
October 20, 201014 yr Any chance for it could be some mass? say "sacrococcygeal teratoma" with pressure effect?
February 8, 201213 yr Hi, What was the final Dx?, How´s the baby doing today? Hope to hear some news.
February 10, 201213 yr Did the baby have a urethra somewhere and an anus?? Could be a sacrococcygeal teratoma, but those kids usually have identifiable genitals....
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