Diagnosis at Birth: Experiences and Research


There is no more exciting or more stressful experience than giving birth.  Parents naturally have concerns for their newborn child’s health.  Sometimes there is evidence of a condition at birth that was not known during pregnancy. Diagnosis of  SA/CRS at birth occurs through a medical evaluation. Depending on the extent of physical difference, the external characteristics may be readily noticed or they may be discovered through additional testing.  Here you can find a list of characteristics that may be noted at birth and a collection of stories from families who have experienced diagnosis of their newborn.

Read our stories

Kay’s Story

Noah’s Story

 

Stephanie’s Story

Jadyn’s Story

Matthew’s Story

Our Little Fighter

 Characteristics possibly noted at birth:

-narrowing of the hips

-sacral dimples

-fusion of ankles or ankles and knees in a bent or straight position

-clubfoot, rocker bottom feet
-small legs with reduced muscle mass

-reduced movement of the lower iimbs

-”buddha position” (legs bent and splayed outward, often with webbing between thighs and calf)
-anal atresia

-small birth weight

-shortened spine

Further evaluation of internal structures may reveal:

-single kidney or horseshoe kidney

-absent vertebra in lower back

-absence of spinal cord in lower back

-other differences with structures of the heart, ears

-other conditions or syndromes that include absence of the sacrum or that occur in addition to absence of the sacrum.

 

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