congenital malformation

[selvanr4]

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.

[Stefan Johansson]

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?

[JACK]

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(?).

[selvanr4]

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

[pragan]

Any chance for it could be some mass? say "sacrococcygeal teratoma" with pressure effect?

[drjorgevc]

Hi, What was the final Dx?, How´s the baby doing today? Hope to hear some news.

[jody0424]

Did the baby have a urethra somewhere and an anus?? Could be a sacrococcygeal teratoma, but those kids usually have identifiable genitals....