OBJECTIVE: To explore the genetic basis for a patient with unexplained developmental delay and special facial features.
METHODS: A male patient admitted to the Maternal and Child Health Care Hospital of Gansu Province on May 27, 2021 due to infertility was selected as the study subject. Clinical data of the patient was collected, and genomic DNA was extracted from peripheral blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing.
RESULTS: The patient was found to harbor a 2.54 Mb deletion in 1p36.33p36.32 and a heterozygous c.1123G>C (p.E375Q) variant of the CHD3 gene, neither of which was detected in his parents.
CONCLUSIONS: The patient was diagnosed with Snijders Blok-Campeau syndrome in conjunct with 1p36 deletion syndrome, which has enabled genetic counseling for his family.

Flexible actuators have garnered significant interest in the domains of biomedical devices, human-machine interfaces, and smart wearables. However, the mechanical properties of existing materials are not sufficiently robust, and the expensive and time-consuming pretreatment process and the ambiguous high-degree-of-freedom deformation mechanism make it difficult to meet the demands of industrialized production. Hence, drawing inspiration from the adaptable movement of living organisms in the natural world, this research created and engineered a fully textile-based humidity-sensitive flexible actuator (TbHs-FA) using high-cost-effective viscose/PET fibers as raw materials. The breakthrough development in actuation performance is covered, including substantial contraction force (92.53 cN), high actuation curvature (16.78 cm-1), and fast response (264 cN s-1 and 46.61 cm-1 s-1). Additionally, the programmable stiffness system and weave structure give TbHs-FAs low hysteresis and fatigue resistance, narrowing the gap between the conceptual laboratory-scale design of existing fully textile-based humidity-sensitive flexible actuators and actual textiles. The high-degree-of-freedom and large bending deformation mechanisms are elucidated for the first time by combining microscopic mechanical structure simulation and macroscopic energy conversion analysis. The novel humidity-sensitive flexible actuator possesses strong mechanical qualities, making it suitable for applications such as flexible robots, medicinal devices, and smart wearables.

The purpose of this study was to compare the safety and effect of piezosurgery with conventional osteotomy in a box-shifting procedure for orbital hypertelorism (ORH) correction surgery. This study retrospectively analyzed the clinical record of 10 ORH patients aged from 5 to 12 years, and they were second-degree ORH with an interorbital distance (IOD) of 35 to 37.8 mm. Three of them received the osteotomy with piezosurgery (the piezosurgery group), whereas the other 7 patients received osteotomy with the conventional osteotomy method (the control group). They were compared with age and preoperative IOD. All the patients\' IOD was effectively improved to normal range after the surgery. The results showed that the application of piezosurgery did not prolong the surgery time (piezosurgery group: 8.3±0.5 hours; control group: 8.7±1.4 hours, P =0.68). Furthermore, the patients in the piezosurgery group had less drainage volume (piezosurgery group: 79.1±12 mL; the control group: 170±41.3 mL, P =0.0065) and shorter postoperative hospital stay (piezosurgery group: 8.3±2.0 d; control group: 12.43±2.29 d, P =0.029). There were 2 patients who had wound infections, 1 in the piezosurgery group and 1 in the control group, respectively. However, 1 patient in the control group suffered from cerebrospinal fluid leakage. On the basis of the results, the application of piezosurgery benefited the patients on a better and smoother recovery course with less drainage and shorter hospital stays. The advantages of piezosurgery are the fine and precise osteotomy and the protection for soft tissue, which make it a comparatively safe and effective tool for craniofacial surgery, especially for young patients.

Craniofacial anomalies (CFAs) are a diverse group of disorders affecting the shapes of the face and the head. Malformation of the cranial base in humans leads CFAs, such as midfacial hypoplasia and craniosynostosis. These patients have significant burdens associated with breathing, speaking, and chewing. Invasive surgical intervention is the current primary option to correct these structural deficiencies. Understanding molecular cellular mechanism for craniofacial development would provide novel therapeutic options for CFAs. In this study, we found that enhanced bone morphogenetic protein (BMP) signaling in cranial neural crest cells (NCCs) (P0-Cre;caBmpr1a mice) causes premature fusion of intersphenoid synchondrosis (ISS) resulting in leading to short snouts and hypertelorism. Histological analyses revealed reduction of proliferation and higher cell death in ISS at postnatal day 3. We demonstrated to prevent the premature fusion of ISS in P0-Cre;caBmpr1a mice by injecting a p53 inhibitor Pifithrin-α to the pregnant mother from E15.5 to E18.5, resulting in rescue from short snouts and hypertelorism. We further demonstrated to prevent premature fusion of cranial sutures in P0-Cre;caBmpr1a mice by injecting Pifithrin-α through E8.5 to E18.5. These results suggested that enhanced BMP-p53-induced cell death in cranial NCCs causes premature fusion of ISS and sutures in time-dependent manner.

Orbital hypertelorism correction is still a less precise procedure, with a simple preoperative design and surgical results often depending on the operator\'s experience. In recent years, computer-assisted technology has been fully utilized in craniofacial surgery. This article aims to explore the clinical results of computer-assisted technology in orbital hypertelorism correction and discuss its advantages and effects on treatment. Four patients with orbital hypertelorism underwent intracranial and extracranial combined box osteotomy correction. Preoperative computed tomography scans were performed, and 3-dimensional 3D digital technology was used to measure the orbital spacing, virtually design the 3D cutting scheme, and guide the intraoperative 3D cutting to improve the accuracy of periorbital osteotomy and reduce the surgical risk. Four patients underwent successful surgery, and the average distance of the medial orbital wall was decreased from 43.6 to 23.4 mm. Computer-assisted box osteotomy shortens the operative time and provides better corrective results.

Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been reported.
A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. Two consecutive fetuses in this family presented with tetraphocomelia, growth restriction, cleft lip and palate bilaterally, and other abnormalities. The main phenotypic characteristics of this case were strongly suspected to be associated with RBS. Finally, whole exome sequence analysis revealed the insertion of a homozygous base pair in exon 6 of the ESCO2 gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs). Both of the couples were heterozygous carriers for this variant.
We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic characteristics for the prenatal diagnosis of RBS due to this causative variant.

The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases.

UNASSIGNED: This study aimed to explore the clinical effects of inverted-U osteotomy in correcting orbital hypertelorism and to further explore its indications and advantages; 4 patients with orbital hypertelorism and premature closure of unilateral coronal suture underwent inverted-U osteotomy. The interorbital distance was measured using three-dimensional digital technology pre- and postoperatively. Virtual preoperative planning and three-dimensional cutting guide were used to minimize surgical risk and increase the precision of periorbital osteotomy. The procedure was successfully performed on 4 patients; the average orbital medial wall distance was reduced from 34.9 mm to 23.1 mm. Inverted-U osteotomy is a modified surgical method especially applicable to orbital hypertelorism with premature closure of unilateral coronal suture. Advantages include less surgical trauma, a shorter operative time, and better correction results.

OBJECTIVE: To summarize and analyze the postoperative complications of box-shift osteotomy performed at our center for Chinese orbital hypertelorism patients from 2008 to 2017.
METHODS: This retrospective study reviews the records of 78 patients with complete medical records and at least 2 years of postoperative follow-up data. Both radiologic and anthropometric assessments were conducted before, 1 month after and 2 years after surgery to evaluate the bony and soft-tissue alterations. Postoperative complications were recorded during hospitalization and at each follow-up visit and divided into 3 groups: acute complications that occurred within 1 month after surgery; early complications that occurred within 6 months after surgery; and long-term complications that occurred within 2 years after surgery.
RESULTS: Both bony and soft-tissue alterations were significant at 1 month after surgery. The acute complications that occurred in our center included infection (12.8%), cerebrospinal fluid leakage (29.5%), epilepsy (2.6%), and nasal tip skin necrosis (1.3%). The early complications included strabismus (11.5%) and nasolacrimal duct obstruction (3.8%). The long-term complications included insufficient correction (55.1%), palpable metal implants (92.3%) and a drooping nasal tip (33.9%). Due to the insufficient correction and the continued growth of rib graft, the difference in the hypertelorism index and nasal length, between one month and 2 years postoperatively were statistically significant (P < 0.01). Other radiographic and anthropometric measurements changed with growth without a significance difference between 1 month and 2 years after surgery.
CONCLUSIONS: In this study, we recorded all postoperative complications of box-shift osteotomy. The challenge of our future work is to identify methods for decreasing the incidence of these complications.

A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. The genetic etiology of LC remains elusive. The involvement of genetic factors in the development of LC is suggested by reports of familial occurrence, and the increased prevalence of component features among first-degree relatives of affected individuals and murine knockout models. No consistent pattern of inheritance has been found in nonsyndromic patients, except for cases associated with described syndromes. Once the syndrome related to the laryngeal cleft is considered, an active search for the cleft must be initiated. The genetic evaluation of patients with LCs should be guided by the type and location of the malformation, specific medical history and a detailed physical examination. The application of genetic approaches, such as microarrays and exome sequencing might lead to elucidating the etiology of LCs.