Stickler Syndrome

Autosomal dominant. At birth the features may be those of Pierre-Robin sequence. X-rays at that time may show: coronal clefts of vertebrae, mild platyspondyly and flaring of the metaphyses of the long bones. Later, the outline of the bones becomes more normal but a mild epiphyseal dysplasia may develope, leading to early osteoarthritis. The main clinical problem after the neonatal period is a severe myopia with the risk of retinal detachment.

Therefore, any child with Pierre-Robin Sequence should have careful ophthalmologic followup.  (the Robin makes a nest with Sticks, and pokes you in the eye when you come close)

• midfacial hypoplasia
• Pierre-Robin Sequence (micrognathia, glossoptosis; cleft palate)
• deafness
• myopia
• marfanoid habitus
• degenerative arthropathy

CHLA board review course 2005
Baraitser and Winter, 1996. Color Atlas of Congenital Malformation Syndromes