Short stature despite involving both appendicular and axial skeleton maintained proportion in our case. The probable cause of short stature was major skeletal changes presented with spondylar dysplasia. [hindawi.com]

Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate and these mutations cause some unusual disorders which may be described as Stickler-like but have short stature and brachydactyly [rarediseases.org]

Skeletal manifestations are early-onset arthritis, short stature relative to unaffected sibs, and radiographic findings consistent with mild spondyloepiphyseal dysplasia. Some individuals have a slender body habitus, but without tall stature. [ncbi.nlm.nih.gov]

Spinal abnormalities associated with Stickler may become progressively worse and may be associated with back pain. [rarediseases.org]

Spinal abnormalities commonly observed in Stickler syndrome that result in chronic back pain are scoliosis, endplate abnormalities, kyphosis, and platyspondylia [Rose et al 2001]. [ncbi.nlm.nih.gov]

He showed mild motor developmental delay with delayed walking. Poor vision and hearing were noted when he started attending school. Family history was unremarkable. [hindawi.com]

On physical examination his weight, height, and head circumference were 22 kg (between 0 and 1 SD), 99 cm ( 3 SD proportionate short stature), and 47.8 cm ( 3 percentiles), respectively. [hindawi.com]

In contrast, our patient showed a broad thorax and short fingers and toes [6]. Short stature despite involving both appendicular and axial skeleton maintained proportion in our case. [hindawi.com]

Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 12q13.11 refers to band 13.11 on the long arm of chromosome 12. [rarediseases.org]

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]

Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, chromosome 12q13.11 refers to band 13.11 on the long arm of chromosome 12. [rarediseases.org]

Diffuse osteopenia was evident at the epiphysis of bilateral femora and tibiae which were normal in shape, apart from mild flattening of the distal femoral epiphyses. [hindawi.com]

In our case, eye findings were high myopia, vitreous changes, corneal opacity, uveitis, and ptosis. [hindawi.com]

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]

The overall manifestations of the current case suggested the diagnosis of STL type 1. However, he showed a few unreported features. Significant short stature present in our patient has not been reported previously. [hindawi.com]

More advanced testing (e.g., echocardiogram) should be reserved for those with suggestive symptoms. [ncbi.nlm.nih.gov]

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]

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]

They found scoliosis in 34% cases, 74% endplate abnormalities, 64% Schmorl’s nodes, 43% platyspondyly, and Scheuermann-like kyphosis in 43% [8]. [hindawi.com]