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The limb malformations include brachydactyly, overriding digits and clino-symphalangism in hands and feet and syndactyly and hexadactyly in feet. Skeletal defects include scoliosis, dislocated patellae and fibulae and pectus excavatum. The disease locus is mapped to a 1.6 Mb region at 12q23, harbouring a homozygous in-frame deletion of 15 nucleotides in Novel variant c.467_481del (p.L156_N160del) is deduced to lead to the deletion of five evolutionarily highly conserved amino acids and predicted as damaging to protein by in silico analysis. Our findings confirm the crucial role of CHST11 in skeletal morphogenesis and show that defects have variable manifestations that include a variety of limb malformations and skeletal defects.

We present five members of a consanguineous Pakistani kinship with the most severe familial tetramelic transverse autopod deficiency reported to date and additionally having some of the common autosomal recessive Robinow syndrome‐1 (RRS1) features including short stature, short neck, severe vertebral anomalies of kyphoscoliosis, hemivertebrae, fusion of thoracic vertebrae, broad forehead, and dental crowding. We mapped the locus of this atypical RRS and detected homozygous 8‐nucleotide deletion c.1353_1360del (p.(Met452Alafs*4)) in ROR2, the gene responsible for RRS1. We did not find any other variant shared by all affected individuals that could possibly act as a modifier of limb defect. Autopods are affected in RRS1, but severe autopod deficiency is not a characteristic feature. Over 30 biallelic variants dispersed throughout the gene are known in ROR2‐related RS, with no genotype–phenotype correlation for specific RRS1 features. Considering together with the sporadic case homozygous for variant p.(Arg442*) and the case homozygous for p.(Arg441Thrfs*16) in a family where heterozygous members have brachydactyly type B1, we propose that homozygous truncating variants that originate at residues 441–452 can cause severe autopod reduction anomalies, suggesting some genotype–phenotype correlation for this particular phenotype.

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Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. By linkage analysis and exome sequencing we identified homozygous early truncating variant c.115G > T (p.Glu39*) in FAM160B1 in a 38‐year‐old woman with severe ID, microcephaly, behavioral abnormalities, speech problems, mild ataxia and mild facial dysmorphism. Recently homozygous missense c.248 T > C (p.Leu83Pro) was reported to underlie the ID syndrome in a 7‐year‐old boy and his two younger siblings. Some findings for those siblings overlap with those for our patient, but our patient does not have cutis laxa. Our findings confirm FAM160B1, with unknown function, as a syndromic ID gene and indicate that FAM160B1 is not essential for survival but is vital for proper functioning of the nervous system, delineate the FAM160B1‐related ID, and describe the disease in a much older age.

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The aim of this study is to evaluate the effectiveness of 5% dectrose prolotherapy on low back pain in patients with chronic low back pain without neurological deficits. Material-Method: Prolotherapy with 5% dextrose was applied to patients with localized low back pain, hip pain, spreading pain in the legs for more than six months. Stretching exercises were recommended after prolotherapy and an analgesic containing paracetamol (500 mg) + codeine phosphate (10 mg) + caffeine (30) mg was used for analgesia for the first 3 days. Prolotherapy was planned 3 times with an interval of twenty days. Results: Thirty patients between the ages of 24-73 were included in the study. Eighteen patients received 3 sessions whereas twelve patients received 2 sessions of prolotherapy. Visual analogue scale (VAS) pain scores of all patients decreased. The mean pre-treatment VAS score was 8.43 and it decreased to 2.41 after the treatment. None of the patients had side effects that would terminate the treatment. Conclusion:The data obtained in the study show that prolotherapy is effective in treating chronic low back pain. We did not conduct long-term follow-up in our study. After three sessions and between sessions, we assessed the current state of well-being. More extensive studies will guide clarification of its place in the treatment of long-term low back pain.

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