Significant short stature present in our patient has not been reported previously. In previous reports height was reported to be normal in most patients [5, 6]. [hindawi.com]

At present, no consensus minimal clinical diagnostic criteria exist. [ncbi.nlm.nih.gov]

The numbered bands specify the location of the thousands of genes that are present on each chromosome. [rarediseases.org]

• Long Arm

  long (q) arm of chromosome 20 (20q13). [rarediseases.org]

• Platyspondyly

  Features of midface hypoplasia, early onset high grade myopia, platyspondyly, and epiphyseal changes are compatible with differential diagnosis of acromesomelic dysplasia (AMD) (mesomelic shortening, platyspondyly, brachydactyly, prominent first toes, [hindawi.com]

• Hearing Impairment

  Discussion STL type 1 is a rare autosomal dominant condition with characteristic ophthalmological and orofacial features, hearing impairment, and mild spondyloepiphyseal dysplasia. [hindawi.com]

  Hearing impairment is common. The degree of hearing impairment is variable and may be progressive. Some degree of sensorineural hearing impairment (typically high-tone, often subtle) is found in 40% of individuals [Snead & Yates 1999]. [ncbi.nlm.nih.gov]

• Depressed Nasal Bridge

  Facial features revealed midface hypoplasia, depressed nasal bridge, micrognathia, thick lips, and wide mouth. The left eye was smaller than the right along with eye ptosis and corneal opacity (Figure 1). [hindawi.com]

Standard Therapies Treatment The treatment of Stickler syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Early identification of ocular and auditory abnormalities allows early treatment and prevention of complications. Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. [hindawi.com]

[…] of refractive errors with spectacles; standard treatment of retinal detachment and sensorineural and conductive hearing loss; symptomatic treatment for arthropathy. [ncbi.nlm.nih.gov]

Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. Competing Interests The authors declare that there is no conflict of interests regarding the publication of this paper. [hindawi.com]

Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Cleft Palate Craniofac J. 2004;41:47–52. [PubMed: 14697070] Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. [ncbi.nlm.nih.gov]

Early identification of ocular and auditory abnormalities allows early treatment and prevention of complications. Correct diagnosis allows prognosis of and surveillance for skeletal complications and genetic counseling for affected families. [hindawi.com]

Prevention of secondary complications: Antibiotic prophylaxis for certain surgical procedures if mitral valve prolapse is present. [ncbi.nlm.nih.gov]

Individuals with Stickler syndrome and Pierre-Robin sequence may require a tracheostomy (a procedure in which a tube is placed through a surgical opening in the neck) to prevent breathing (respiratory) difficulties. [rarediseases.org]