Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary disorders of connective tissue that do not seem to fit these historical subtypes exist. The aim of this study is to describe a large series of patients with inherited connective tissue disorders evaluated by our clinical genetics service and for whom a likely causal variant was identified. In addition to clinical phenotyping, patients underwent various genetic tests including molecular karyotyping, candidate gene analysis, autozygome analysis, and whole-exome and whole-genome sequencing as appropriate. We describe a cohort of 69 individuals representing 40 families, all referred because of suspicion of an inherited connective tissue disorder by their primary physician. Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes. We also describe the first recessive EDS-like condition to be caused by a recessive COL1A1 variant. In addition, exome capture in a familial case identified a homozygous truncating variant in a novel and compelling candidate gene, AEBP1. Finally, we also describe a distinct novel clinical syndrome of cutis laxa and marked facial features and propose ATP6V1E1 and ATP6V0D2 (two subunits of vacuolar ATPase) as likely candidate genes based on whole-genome and whole-exome sequencing of the two families with this new clinical entity. Our study expands the clinical spectrum of hereditary disorders of connective tissue and adds three novel candidate genes including two that are associated with a highly distinct syndrome.

Klippel-Feil syndrome (KFS) is a segmentation malformation of the cervical spine; clinically, it manifests as a short neck with reduced mobility and a low posterior hairline. Several genes have been proposed as candidates for KFS when it is present with other associated anomalies, but the genetics of isolated KFS have been difficult to study because of the syndrome's mostly sporadic occurrence. We describe a multiplex consanguineous family in which isolated KFS maps to a single 17q21.31 locus that harbors a homozygous frameshift deletion in MEOX1; this deletion results in complete instability of the transcript. Direct sequencing of this gene in two siblings from another consanguineous family affected by isolated KFS uncovered another homozygous truncating (nonsense) MEOX1 mutation that also leads to complete degradation of the transcript. This gene encodes a transcription factor with a well-established and nonredundant role in somite development, and homozygous null alleles of Meox1 in mice have a cervical skeletal defect that is remarkably similar to the one we observe in human individuals with MEOX1 mutations. Our data strongly suggest that KFS is the human phenotypic equivalent of the sclerotome polarity defect that results from Meox1 deficiency in mice.

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Objectives: To quantify the prevalence and identify the associated factors of musculoskeletal pain among Saudi female school teachers. Methods: An observational quantitative cross-sectional survey of female Saudi school teachers in five different areas of Saudi Arabia was carried out between August and October 2013. A self-administered questionnaire was used in which the items related to participants’ demographic information and pain information were included. A numeric pain rating scale was used for patient self-reporting of pain. Data analysis was carried out using SPSS Pc+ version 21.0 statistical software. Results: Four hundred and eighty six female school teachers responded to the survey. Severe Low back pain was reported by 38.1% of teacher, followed by knee pain (26.3%), heel (24.1%), shoulder (20.6%), upper back (17.7%), hip joint (16.5%),ankle (12.3%), neck (11.3%). Sever pain of elbow (5.6%) and wrist (7.4%) was the least reported. Pain affected work at school in 46.1% of school teachers. A combination of variables: body mass index, Vitamin D deficiency, teaching level, presence of chronic illness, were found to be significantly associated with musculoskeletal pain. Conclusion: The results of self-reported prevalence of musculoskeletal pain among female Saudi school teachers is useful to educate the school teachers for adequate care so as to prevent these pains. There is a need for the higher authorities to address this issue and implement intervention programs to alleviate the pain and suffering of these school teachers.

In this cross-sectional study, we surveyed all pediatric orthopedic surgeons in Saudi Arabia using an anonymous electronic questionnaire composed of 23 items to identify the rate of occupational injuries and obtain other relevant information. Thirty-nine participants completed the questionnaire (response rate: 83%). Participants who sustained occupational injuries throughout their careers represented 82.5%. The most injured areas were the hands, eyes, and back by 54.5%, 24.2%, and 15.2%, respectively. Approximately 11.1% were injured while operating on infected patients. Approximately 30.3% reported their injuries to their institution. We concluded that the rate of occupational injuries among pediatric orthopedic surgeons is very high and underreported.

Background Clubfoot is a treatable abnormality that can be managed with early intervention. However, there is a lack of public knowledge regarding clubfoot, which can delay treatment. This study aimed to assess the public awareness of clubfoot and knowledge regarding the importance of treatment in early childhood. Methods This cross-sectional survey spanned 6 months, from June through November 2018, and involved persons living in Saudi Arabia. To collect data on public awareness of clubfoot risk factors, treatment, and prognosis, a questionnaire was developed by orthopedic experts and disseminated online. The target population included people of both genders and all age groups from the general population, regardless of their knowledge of someone with clubfoot. Results By the end of the study period, 746 participants completed the online survey. In total, 520 of the respondents (69.7%) had never heard about clubfoot syndrome. Among the participants, 5.4% had a child with clubfoot syndrome and 4.6% were aware of clubfoot because they had an affected child. The top resource accessed by respondents for obtaining knowledge about clubfoot was social media channels (38.4%), followed by obtaining knowledge from relatives and friends (19.9%). The most reported perceived cause of clubfoot was hereditary and genetic disorders (58.4%), followed by neurological disorders (39.9%). Conclusions Results show that there is low public knowledge of clubfoot which may be attributed to a lack of awareness campaigns. We recommend increasing awareness regarding clubfoot through social media platforms and public campaigns in key locations, such as malls, as this may encourage people to seek early treatment. This is important because early management of clubfoot is less invasive and with regular follow-up, leads to better patient outcomes.

Background: The mechanism behind idiopathic scoliosis and its progression is not fully understood. Vitamin D insufficiency is known to play a role in the progression and/or occurrence of a variety of bone diseases. In this study, we aimed to estimate the prevalence of vitamin D insufficiency among patients with adolescent idiopathic scoliosis. Additionally, we aimed to calculate the differences in serum vitamin D levels, Cobb angles, spinal bone mass densities, and serum alkaline phosphatase levels between the sexes in the sample and to assess the possibility of a correlation between any of these factors. Methods: Demographic details, vitamin D levels, Cobb angle, spinal bone mass density, and alkaline phosphatase were collected from the records of 67 patients who were eligible for corrective surgery. These values were compared to normal levels and between the sexes within the study. Results: Of the 67 patients, 54 (80.6%) were female. The mean serum vitamin D level was 37.86 ± 26 nmol/L, and levels below normal were found in 92.5% of the patients. Statistical analysis showed significant differences (p = 0.002) in serum alkaline phosphatase levels between the sexes. No correlation was found between vitamin D levels and the Cobb angles, spinal and bilateral femoral neck bone mass densities, and serum alkaline phosphatase levels. Conclusions: Most adolescent idiopathic scoliosis patients had insufficient serum vitamin D levels and also suffered from low bone mineral density at an early age.

Background Heavy schoolbags and their adverse musculoskeletal effects are a cause of great concern. Parents’ awareness and knowledge about this are crucial to prevent such health problems. Thus, this study aimed to assess parents’ perceptions, knowledge, and attitudes regarding children’s schoolbags and related musculoskeletal health. Methods A cross-sectional study was conducted targeting parents with children of school age. In January 2015, a self-administered, validated questionnaire was distributed to all participants, consisting of questions about their awareness, knowledge, and attitude regarding the negative effects of carrying inappropriate schoolbags on children’s musculoskeletal health. Result A total of 616 parents (284 fathers and 332 mothers) completed the questionnaire (response rate of 100%). A total of 247 (87.3%) fathers and 301 (90.9%) mothers knew that carrying heavy schoolbags produces back problems. However, only 105 (36.9%) fathers and 107 (37.6%) mothers knew that incorrect schoolbag weight and inadequate way to carry it may impede the normal alignment and growth of the spine. Only 107 (37.6%) fathers and 96 (28.9%) mothers knew the ideal weight of the schoolbag, while 49.6% of fathers and 42.8% of mothers did not check their children’s schoolbags for unnecessary contents. Conclusion Awareness of parents about the consequences of heavy schoolbags and correct use is still limited and suboptimal. Educational sessions for parents and awareness campaigns may help to reduce the prevalence of musculoskeletal health problems among children. Electronic supplementary material The online version of this article (10.1186/s13018-019-1142-9) contains supplementary material, which is available to authorized users.