Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features

Spondylometaepiphyseal dysplasia short limb-abnormal calcification type (SMED-SL/AC) is a rare autosomal recessive disorder. It is a severe dwarfism syndrome with a characteristic feature of progressive calcification of epiphyseal and other cartilaginous tissues. It is caused by pathogenic variants in the <i>DDR2</i> gene encoding the discoidin domain receptor tyrosine kinase 2. Thus far, 37 cases and 8 pathogenic variants have been reported. Most of the reported cases are of Middle Eastern and Puerto Rican origins. Only one Turkish case has been reported previously with a novel truncating variant p.(R489*). Here, we report 2 new cases, 1 with a novel variant p.(S311G) and 1 with a splice site variant c.2283+1G&#x3e;A. In addition, we reviewed a previously reported case, and sequencing of stored DNA revealed the recently reported nonsense variant p.(R489*) as the underlying cause. Therefore, our data increase the number of SMED-SL/AC Turkish patients with molecular results to 4. Furthermore, we compared the features of Turkish patients with other reported cases and expanded the characteristics of the disorder with new features such as triventricular hydrocephalus, intracranial hemorrhage, hypopigmentation of hair, dry and scaly skin, arthralgia, and hypocalcemia. We also compared the pathogenic variants of Turkish patients with other variants, aiming to explain the mechanism leading to a more severe and early fatal course in Turkish patients.

A rare case of proximal short limb dwarfism-rhizomelic chondrodysplasia punctata type-2

Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare peroxisomal disorder (autosomal recessive inheritance) due to altered phytanic acid alpha oxidation and plasmalogen synthesis. RCDP 1 is the most frequent form of RCDP. It is a peroxisomal biosynthesis disorder. RCDP 2 and RCDP 3 are disorders of individual peroxisome enzyme. Authors described a case of RCDP type 2 in a 13 months old girl with characteristic features of typical chondrodysplastic facies, bilateral cataract, rhizomelic shortening of limbs, growth and global developmental delay; radiological features showed epiphyseal stippling. Genetic analysis showed apparent homozygous deletion of c.1848delC after full sequencing of her GNPAT genes.

Polio-like deformity: a diagnostic dilemma

ABSTRACT BACKGROUND: Significant advances have been made in the global effort to eradicate polio. Vaccine-associated poliovirus, or other enteroviruses, may still affect the anterior horn cell and cause acute flaccid paralysis. Following the acute disease, residual paralysis results in lower motor neuron weakness, altered growth and deformity. Our study aims to describe the clinical manifestations of a group of children that mimic that of classic paralytic poliomyelitis METHODS: We identified six children from our paediatric orthopaedic database that presented with polio-like deformities. Their clinical and imaging records were reviewed and described, together with the clinical manifestations of paralytic poliomyelitis RESULTS: Limb hypoplasia, pathological gait patterns and foot deformities were consistent features. The median leg length discrepancy was 2.5 cm (range 2-4 cm). The gait patterns observed included a Trendelenburg gait in 33% (n=2), a short limb gait in 50% (n=3), and one case with a combination of Trendelenburg, short limb and steppage gait. Tensor fascia lata contracture was present in 50% (n=3) of our patients. Foot deformities ranged from calcaneo-cavo-valgus to equino-cavo-varus deformities CONCLUSION: Despite significant advances made in the global fight to eradicate polio, we still see children with clinical manifestations reminiscent of the disease. Orthopaedic surgeons should remain familiar with the assessment and diagnosis of the sequelae of paralytic poliomyelitis Level of evidence: Level 5 Keywords: poliomyelitis, vaccine-associated paralytic poliomyelitis, polio-like deformity, acute flaccid paralysis

A novel method for cannulation of the short limb of aortic stent grafts during endovascular aneurysm repair: Göçer technique

Cannulation of the shorter limb of an abdominal aortic endograft can be demanding. Confirmation of the accurate cannulation is equally challenging. Interventional cardiologists and cardiovascular surgeons may encounter certain difficulties during this procedure. In particular, cardiologists have a wide variety of experience in interventions from coronary practice. This novel method we describe herein consists of peripheral balloon usage in wiring the short limb of an aortic stent graft. In this method, an over-the-wire peripheral balloon is employed to centralize the wire at the gate of the short limb. The centralized wire in three-dimensional arterial lumen can cross the short limb of the graft easily.

Obesity in achondroplasia patients: from evidence to medical monitoring

Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism. It is characterized by bone growth abnormalities that are well characterized and by a strong predisposition to abdominal obesity for which causes are unknown. Despite having aroused interest at the end of the 20 h century, there are still only very little data available on this aspect of the pathology. Today, interest is rising again, and some studies are now proposing mechanistic hypotheses and guidance for patient management. These data confirm that obesity is a major health problem in achondroplasia necessitating an early yet complex clinical management. Anticipatory care should be directed at identifying children who are at high risk to develop obesity and intervening to prevent the metabolic complications in adults. In this review, we are regrouping available data characterizing obesity in achondroplasia and we are identifying the current tools used to monitor obesity in these patients.