What is PSS AMC? ****TW Pictures of Emma****

Emma’s ultimate diagnosis after autopsy and more testing was Pena Shokeir Syndrome Arthrogryposis Multiplex Congenita. Let’s break the two of those down a little more. Quite a mouthful eh??

Arthrogryposis Multiplex Congenita or AMC is a disease of newborns resulting in decreased flexibility of the joints. Symptoms differ drastically from person to person, including stiff joints and muscle weakness.

When arthrogryposis affects two or more different areas of the body, it may be referred to as arthrogryposis multiplex congenita (AMC).

Arthrogryposis multiplex congenita (AMC) is not inherited in most cases; however, a genetic cause can be identified in about 30% of affected people. … Depending on the underlying genetic cause, it may be inherited in an autosomal recessive , autosomal dominant or X-linked manner.

There is no cure for arthrogryposis, and treatment is directed towards specific symptoms an individual may be experiencing.

The frequency is about 1 in 3000 live births.

Pena Shokeir Syndrome or PSS for short, is a condition is an inherited disorder characterized by neurogenic arthrogryposis, facial anomalies, pulmonary hypoplasia and dysmorphic features resulting from fetal akinesia.

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

The syndrome is rare: about 100 cases have been described in the literature. About 30% are stillborn, and the majority of those live-born die of the complications of pulmonary hypoplasia.

There are similarities between Pena-Shokeir syndrome type I and the trisomy 18 syndrome (which is something we were told from the beginning she had, that was ruled out through testing): both may include multiple ankyloses, camptodactyly, and rocker-bottom feet.

It has a prevalence of <1/1,000,000 births, with an autosomal recessive mode of inheritance. About 100 cases have been described in the literature, with about 30% of fetuses dying in utero, and the vast majority of neonates succumbing in the early neonatal period due to pulmonary hypoplasia.

Emma had severe clubfoot, scoliosis as well as micrognathia, small ears and a cleft palate. The cleft palate certainly did not help with her breathing issues and the AMC caused her jaw to be almost clinched completely shut, making it extremely difficult to try and get a breathing tube in her throat. One of the many reasons I am grateful that Ryan chose to not intubate Emma, because had he done that, she would have been put through unnecessary treatment and still would have passed within a few hours.

With her having to be transported to Cardinal Glennon immediately after birth I wouldn’t have been able to hold her until after she passed because I wouldn’t have been able to be transported with her. While our time was cut extremely short, I am blessed to have held her while she took her last tiny breath.

Emma didn’t have finger creases although her fingers were LONG and skinny (we called them piano playing fingers), there weren’t creases in her ankles or wrists or elbows and her toes were severely disformed. This was from the AMC and her decreased fetal movement.

Had she survived birth she would have had a very long, very hard road ahead of her. Obviously we would have done whatever we needed to for her to live a happy life, but it would not have come easily or cheaply. It would have been multiple surgeries before 1 yr old a long 5+ years of bracing for her feet, etc. We are so grateful for the amazing team of physicians that were ready and waiting for Ms. Emma’s arrival. We can’t thank our neonatal staff enough for their tireless efforts to keep Emmy Lou alive.

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