712 - Sensenbrenner Syndrome: When lightning strikes twice

Case Diagnosis: Sensenbrenner syndrome

Case Description: We present the case of a 13 year old male born to consanguineous parents. While his birth was uncomplicated, his developmental milestones were significantly delayed, taking 8 months to sit up, 2 years to pull to stand, and 3 years to walk and say his first word. On exam, the patient was also found to have prominent frontal bossing, dolichocephaly, hyperglossia, hypotonia and brachydactyly of the fingers and toes. After eval with genetics and developmental pediatrics, the patient was diagnosed with Sensenbrenner syndrome which his older brother also has. While he still requires significant assistance with his ADL's, through consistent theraputic intervention he is now able to speak in single word phrases, follow basic comands, and ambulate using bracing.

Discussions:

Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is an exceptionally rare autosomal recessive condition characterized by craniofacial dysmorphisms, skeletal abnormalities, ectodermal defects, and multiorgan involvement. It is estimated to have an incidence rate of less than one case per 1,000,000 live births in the United States. The number of documented cases within existing literature is extremely limited, underscoring the clinical significance of each new description. The rarity of this case is increased further by the occurance of Sensenbrenner syndrome in the patients brother as well, highlighting the key role genetics play in the devleopment of this condition. While data is limited, the long term prognosis of these patients is thought to be limited, with many patients dying prior to puberty. Our patient not only survived past this point, but was found to make progress on his functional milestones, demonstrating how much is yet to be understood about this rare condition. 

Conclusions: Sensenbrenner syndrome is extremely rare, and available data on these patients is limited. More research is needed to understand the longterm functional prognosis of patients with this condition.