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Hyperbilirubinemia is one of the most widely seen causes of neonatal morbidity. Haemolytic disease of fetus and newborn is caused by maternal alloantibodies to the fetal RBCs. It is responsible for incompatibility between maternal and fetal blood groups, which results in destruction of fetal red blood cells causing hyperbilirubinemia. ABO and Rh incompatibility are the most common causes of severe indirect hyperbilirubinemia. Besides ABO and Rh isoimmunization, minor blood group incompatibilities such as anti-Kell, anti-C, anti-c, anti-E, anti MNS, Duffy, KIDD, P, Lutheran and Lewis have also been identified as causes of severe neonatal jaundice with an incidence of 385/1,00,000 live births in South-East Asia. We, hereby report a rare case of a full term 2.2 kg newborn presented with severe anemia with reticulocytosis and neonatal hyperbilirubinemia at second hour of life. In view of strongly positive DCT and no Rh negative or ABO setting, minor blood group incompatibility screening test was performed in the mother which revealed presence of multiple alloantibodies; however, the red cell phenotyping confirmed the presence of anti-c antibodies in maternal sera responsible for neonatal alloimmune haemolytic anemia. The baby was offered intensive phototherapy with intravenous immunoglobulin.
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Los mucoceles son lesiones de extravasación salival asociados a la ruptura de los conductos que generalmente se asocian con trauma. Son azuláceos, con aspecto traslúcido, fluctuantes a la palpación, expansivos y de crecimiento rápido. Mayoritariamente se manifiestan en población joven. El sitio más común de localización es la mucosa de labio inferior, sin embargo, pueden presentarse en cualquier zona que contenga glándulas salivales menores, como vientre de lengua, donde se encuentran las glándulas Blandin-Nuhn. La frecuencia de las lesiones asociadas a éstas glándulas es del 2.25% reportándose aproximadamente 400 casos hasta la fecha. La finalidad de ésta publicación es la descripción de una patología infrecuente, así como realizar una revisión a la literatura. Se presenta el caso de una niña de tres años con historia de aumento de volumen congénito en el dorso de la lengua sin síntomas compatibles con mucocele, se realiza biopsia excisional bajo anestesia general. El resultado del estudio histopatológico reporta: fenómeno de extravasación de mucosa. Paciente evoluciona satisfactoriamente. Estas lesiones expansivas pueden repercutir en el desenvolvimiento normal de la vida de las personas causando dislalia, disfagia y disnea. El tratamiento de este tipo de lesiones en la infancia favorece a un adecuado desarrollo del habla y mejora las condiciones de alimentación.
Mucoceles are salivary extravasation lesions associated with rupture of ducts that are generally associated with trauma. They are bluish, translucent in appearance, fluctuating on palpation, expansive and fast growing. They mostly occur in young people. The most common site of location is the mucosa of the lower lip, however, they can occur in any area that contains minor salivary glands, such as the belly of the tongue, where the Blandin-Nuhn glands are located. The frequency of lesions associated with Blandin-Nuhn's glands is 2.25%, with approximately 400 cases reported to date. The purpose of this publication is the description of an uncommon pathology, as well as a review of the literature. The case of a three-year-old female with a history of congenital volume increase at the dorsum of the tongue without symptoms compatible with mucocele is reported, an excisional biopsy was performed under general anesthesia. The result of the histopathological study reports: extravasation mucus phenomenon. Patient evolves satisfactorily. These expansive lesions can affect the normal development of people's lives, causing dyslalia, dysphagia and dyspnea. Treatment of this type of injuries in childhood favors adequate speech development and improves feeding conditions.
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Objective To screen the prevalence and related risk factors of minor hallucinations(MH)in newly diagnosed Parkinson's disease(PD).Methods From November 2018 to December 2022,274 newly diagnosed patients with untreated PD were enrolled in the PD Clinic of Brain Hospital Affiliated to Nanjing Medical University.According to the score of item 2 of the unified PD rating scale Ⅰ(UPDRSⅠ),the PD patients with MH were selected(MH group,score≥2).The patients matched in age,sex,education and course of disease level were screened in non-MH PD patients(NMH group,score = 0).Cognitive function,depressive symptoms,anxiety symptoms,sleep quality,non-motor symptoms,rapid eye movement sleep disorder(RBD)symptoms,activities of daily life,motor function and disease severity were evaluated with appropriate scales.The differences between two groups were compared,and the risk factors of MH in PD patients were analyzed by univariate and multivariate progressive Logistic regression.Results Among the 274 newly diagnosed PD patients,11 cases(4.01%)had MH.Compared with those in NMH group(22 cases),MH group had higher Hamilton depression scale(HAMD)scores,higher Hamilton anxiety scale(HAMA)scores,higher PD non motor symptoms(PDNMS)scores and higher RBD scores(all P＜0.05).Univariate Logistic regression analysis showed that high HAMD scores,high HAMA scores,high PDNMS scores and high RBD scores were risk factors for MH in PD patients(all P＜0.05).Multivariate Logistic regression analysis showed that high HAMD score(OR =1.182,95%CI:1.004-1.392,P =0.045)and high RBD score(OR =4.448,95%CI:1.066-18.557,P =0.041)were independent risk factors for MH in PD patients.Conclusions MH may occur in newly diagnosed PD patients with probability.Depression and RBD are independent risk factors for MH in PD patients.Attention should be paid to screening patients like this and early intervention measures should be taken.
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This article reviewed the current status of parent-child communication of breast cancer patients with minor children from the aspects of reasons, timing, modes and contents, and analyzed the possible influencing factors affecting decision-making process from four parts, including the mother, the children,social support and socio-cultural background aspects. It also overviewed relevant interventions focusing on improving the quality of parent-child communication of breast cancer patients. It is expected to provide some suggestions for professionals to construct effective communication interventions in our country.
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Non-muscle myosin heavy chain 9-related disease (MYH9-RD) is an autosomal dominant disease caused by the mutations of the MYH9 gene encoding the non-muscle mysoin heavy chain ⅡA and leads to abnormal accumulation of myosin in cells. These further causes functional disorders of the blood, eye, ear, kidney, and liver systems. MYH9-RD displays heterogeneous kidney involvement and outcomes, but doctors still lack understandings of the mechanism and treatment strategies, owing to difficulty of conducting renal biopsies. Here, we report a case of MYH9-RD with tail fragments heterozygous mutation, which renal pathology is presented as glomerular minor lesion. Moreover, we reviewed related relevant to strengthen clinical diagnosis and understanding of MYH9-RD.
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Non-muscle myosin heavy chain 9-related disease (MYH9-RD) is an autosomal dominant disease caused by the mutations of the MYH9 gene encoding the non-muscle mysoin heavy chain ⅡA and leads to abnormal accumulation of myosin in cells. These further causes functional disorders of the blood, eye, ear, kidney, and liver systems. MYH9-RD displays heterogeneous kidney involvement and outcomes, but doctors still lack understandings of the mechanism and treatment strategies, owing to difficulty of conducting renal biopsies. Here, we report a case of MYH9-RD with tail fragments heterozygous mutation, which renal pathology is presented as glomerular minor lesion. Moreover, we reviewed related relevant to strengthen clinical diagnosis and understanding of MYH9-RD.
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Abstract Background and objective This study aims to quantify bedside pleural procedures performed at a quaternary teaching hospital describing technical and epidemiological aspects. Materials and methods The authors retrospectively reviewed consecutive patients who underwent invasive thoracic bedside procedures between March 2022 and February 2023. Results 463 chest tube insertions and 200 thoracenteses were performed during the study period. Most procedures were conducted by 1st-year Thoracic Surgery residents, with Ultrasound Guidance (USG). There was a notable preference for small-bore pigtail catheters, with a low rate of immediate complications. Conclusion Bedside thoracic procedures are commonly performed in current medical practice and are significant in surgical resident training. The utilization of pigtail catheters and point-of-care ultrasonography by surgical residents in pleural procedures is increasingly prevalent and demonstrates high safety.
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This study integrated continuous data on the impact of the area and yield of minor millets in the sub-basins of Tamil Nadu and correlated it with the area and yield of minor millets in the sub-basins cultivated under the TNIAMProject. In this study, minor millet crops such as foxtail millet, ragi, finger millet, and varagu were introduced in fourteen sub-basins and their yield was carefully collected. This included all parts of Tamil Nadu. This study investigated the suitability of different sub-basins for crop diversification by exploring matching management practices with respective yield potentials. In this study, it was recorded that the yield was more than 3000 kg per acre in the sub-basins of Nagarai River, Lower Vellaru, Pambar River, Krishnagiri, Lower Bhavani, Varaha River, Cauvery River, and Lower Tamirabarani. This has also increased the area under cultivation in these sub-basins. The study found that the area and yield of minor millets in the sub-basins of Tamil Nadu have increased significantly under the TNIAMProject. This is attributed to the input subsidy and technological interventions provided under the project. The study recommends that the excess yield of minor millets caused by the TNIAMProject should be converted into value-added products and documented for sale in the respective areas. This will help to increase the income of farmers and promote the cultivation of minor millets.
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High population pressure, climate change, stagnant crop productivity, changing food habit and declining natural resources compelled us to go for climate resilient resource conservation technologies to bring sustainability in our crop production. Crop diversification by replacing high input requiring cereals with “nutri- cereals” minor millets in our crop rotations and by following intercropping of minor millets with pulses or oilseeds may be economically profitable, environmentally safe and socially acceptable approach to ensure food and nutritional security of the burgeoning population. This is high time to include millets in our daily diets but millet availability in sufficient amount is big issue. Millets are crops of rainfed and dryland resource poor areas and moreover under the threat of global warming and changed climatic scenario sole planting of millets generally gives less economic returns. So, there is an urgent need for incorporation of the pulses/oilseeds as intercrop in millets production system to enhance the production to feed the increasing population on sustained basis besides restoring the soil nutritional status and to overcome the environmental stress. But performance of intercropping system depends on proper selections of suitable intercrop, appropriate row ratio combination and proper input management. Very limited research work has been conducted on intercropping in millets so far but noteworthy information was recorded by the researchers, which has been reviewed through a sincere effort here to give critical view about intercropping in minor millets for agricultural sustainability to the farmers, researchers and consumers.
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SUMMARY: The teres minor is one of the rotator cuff muscles that comprise the superior margin of the quadrangular space. Quadrangular space syndrome (QSS) refers to the entrapment or compression of the axillary nerve and the posterior humeral circumflex artery in the quadrangular space, often caused by injuries, dislocation of the shoulder joint, etc. Patients who fail the primary conservative treatments and have persistent symptoms and no pain relief for at least six months would be considered for surgical interventions for QSS. This cadaveric study of 17 cadavers (males: 9 and females: 8) was conducted in the Gross Anatomy Laboratory at the Department of Anatomy, Faculty of Medicine Siriraj Hospital, Mahidol University. The cadavers were preserved in a 10 % formaldehyde solution and obtained ethical approval by the ethical commission of the Siriraj Institutional Review Board. The morphology of the teres minor muscle-tendon junction, the bifurcation type of the axillary nerve, and the length and number of the terminal branches of the nerve to the teres minor were documented. Specimens with quadrangular space contents and surrounding muscles that had been destroyed were excluded from the study. The results showed that 47.06 % of the specimens had type A bifurcation, 47.06 % had type B bifurcation, and the remaining 5.88 % had type C bifurcation. It was observed that 58.82 % had nonclassic muscle-tendon morphology, while 41.18 % were classic. The average length of the terminal branches of the nerve to the teres minor in males was 1.13 cm, with the majority having two branches. For females, many showed one terminal branch with an average length of 0.97 cm. Understanding the differences in anatomical variations can allow for a personalized treatment plan prior to quadrangular space syndrome surgical procedures and improve the recovery of postsurgical interventions for patients.
El músculo redondo menor es uno de los músculos del manguito rotador que comprende el margen superior del espacio cuadrangular. El síndrome del espacio cuadrangular (QSS) se refiere al atrapamiento o compresión del nervio axilar y la arteria circunfleja humeral posterior en el espacio cuadrangular, a menudo causado por lesiones, dislocación de la articulación humeral, entre otros. En los pacientes en los que fracasan los tratamientos conservadores primarios y presentan síntomas persistentes y ningún alivio del dolor durante al menos seis meses se considerarían para intervenciones quirúrgicas para QSS. Este estudio cadavérico de 17 cadáveres (hombres: 9 y mujeres: 8) se llevó a cabo en el Laboratorio de Anatomía Macroscópica del Departamento de Anatomía de la Facultad de Medicina del Hospital Siriraj de la Universidad Mahidol. Los cadáveres se conservaron en una solución de formaldehído al 10 % y obtuvieron la aprobación ética de la comisión ética de la Junta de Revisión Institucional de Siriraj. Se documentó la morfología de la unión músculo-tendón del músculo redondo menor, el tipo de bifurcación del nervio axilar y la longitud y el número de las ramas terminales del nervio para el músculo redondo menor. Se excluyeron del estudio los especímenes con contenido de espacios cuadrangulares y músculos circundantes que habían sido destruidos. Los resultados mostraron que el 47,06 % de los especímenes presentó bifurcación tipo A, el 47,06 % una bifurcación tipo B y el 5,88 % restante una bifurcación tipo C. Se observó que el 58,82 % presentaba una morfología músculo-tendinosa no clásica, mientras que el 41,18 % era clásica. La longitud pmedia de los ramos terminales del nervio hasta el músculo redondo menor en los hombres era de 1,13 cm, y la mayoría tenía dos ramos. En el caso de las mujeres, mostraron un ramo terminal con una longitud promedio de 0,97 cm. Comprender las diferencias en las variaciones anatómicas puede permitir un plan de tratamiento personalizado antes de los procedimientos quirúrgicos del síndrome del espacio cuadrangular y mejorar la recupe- ración de las intervenciones posquirúrgicas de los pacientes.
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Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Axila/inervação , Manguito Rotador/inervação , Músculo Esquelético/inervação , Cadáver , Dissecação , Variação AnatômicaRESUMO
RESUMEN Introducción: La diabetes continúa siendo una de las principales causas de discapacidad y muerte en la población mundial. Alrededor del 25% de las personas con diabetes desarrollarán una úlcera en alguno de sus miembros pélvicos inferiores. Objetivo: El presente estudio evalúa los aspectos clínicos relacionados con la amputación del miembro inferior pélvico en una cohorte de pacientes con diabetes mellitus. Métodos: Estudio retrospectivo, transversal, realizado en colaboración entre el Instituto Mexicano del Seguro Social y la Facultad de Farmacia de la Universidad Autónoma del Estado de Morelos, implicó una revisión de expedientes de pacientes con diabetes mellitus tipo 2 en el Hospital General Regional "Ignacio García Téllez". Se seleccionaron 100 expedientes clínicos y Electrónicos basados en criterios de inclusión, que incluían edad mayor de 18 años, afiliación en el sitio del estudio, evolución de la diabetes de al menos 10 años, tratamiento farmacológico para la diabetes y diagnóstico de pie diabético con curación completa o amputación como resultado. Los análisis estadísticos se realizaron mediante STATA y se obtuvo aprobación ética. Resultados: Los pacientes con un control glucémico óptimo cuantificando sus niveles de glucosa en ayunas (<130 mg/dl) así como sus valores de hemoglobina glicosilada (< 7%) tuvieron una menor frecuencia de amputaciones (p˂0,001; Chi2) en comparación con aquellos pacientes sin un control glucémico adecuado. Conclusión: Se encontró que ser hombre, valores de hemoglobina glucosilada superiores al 7% y valores promedio de glucosa en ayunas superiores a 130 mg/L aumentan la probabilidad de presentar una amputación de extremidad inferior.
ABSTRACT Introduction: Diabetes continues to be a leading cause of disability and death in the world's population. About 25% of people with diabetes will develop an ulcer in one of their lower pelvic limbs. Objective: The present study evaluates the clinical aspects related to lower pelvic limb amputation in a cohort of patients with diabetes mellitus. Lazarte Echegaray Hospital during the period 2017-2020. Methods: Retrospective, cross-sectional study, conducted in collaboration between the Mexican Institute of Social Security and the School of Pharmacy of the Autonomous University of Morelos State, involved a review of records of patients with type 2 diabetes mellitus at the Regional General Hospital "Ignacio García Téllez". One hundred clinical and electronic records were selected based on inclusion criteria, which included age over 18 years, affiliation at the study site, diabetes evolution of at least 10 years, pharmacological treatment for diabetes and diagnosis of diabetic foot with complete healing or amputation as an outcome. Statistical analyses were performed using STATA and ethical approval was obtained. Results: Patients with optimal glycemic control by quantifying their fasting glucose levels (<130 mg/dl) as well as their glycated hemoglobin values (< 7%) had a lower frequency of amputations (p˂0.001; Chi2) compared to those patients without adequate glycemic control. Conclusion: Being male, glycosylated hemoglobin values greater than 7% and mean fasting glucose values greater than 130 mg/L were found to increase the likelihood of having a lower extremity amputation.
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Background: Thalassemia syndromes are the commonest genetic disorders of blood and constitute a vast public health problem with 2.78 to 4% prevalence in India. The most effective and feasible approach to reduce the incidence of thalassemia major is implementation of carrier screening program to screen the antenatal women in early pregnancy.Methods: Institutional based cross sectional observational study was conducted. We screened 400 antenatal women by performing preliminary test red cell indices, Mentzer index and confirmatory test by high performance liquid chromatography. Husbands of positive women were also tested to find out couples on risk.Results: Out of 400 antenatal women screened, 46 required HbA2 estimation, and 11 (2.8%) were diagnosed as ?-thalassemia minor positive. Most of thalassemia minor positive women were primigravida and mean (SD) age and gestational age of these women was 23.8 (3.1) years and 11.8 (1.7) weeks, respectively. Amongst thalassemia minor positive women most were mild to moderately anemic and these women had significantly greater mean TRBC count. Ninety one percent of thalassemia minor positive women had MCV<77. All of thalassemia minor positive women had MCH<27. Eighty two percent of thalassemia minor positive women had MI<13. None of couple at-risk was detected. So, prevalence of thalassemia carrier was 2.8%.Conclusions: Thalassemia is a monogenetic disorder with autosomal recessive streak. Universal screening in antenatal window by complete blood counts, hematological indices (MCV, MCH, TRBC), Mentzer index and HPLC may lead to non-pyrrhic victory over this odious entity.
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Background: Thalassemia syndromes are the commonest genetic disorders of blood and constitute a vast public health problem with 2.78 to 4% prevalence in India. The most effective and feasible approach to reduce the incidence of thalassemia major is implementation of carrier screening program to screen the antenatal women in early pregnancy.Methods: Institutional based cross sectional observational study was conducted. We screened 400 antenatal women by performing preliminary test red cell indices, Mentzer index and confirmatory test by high performance liquid chromatography. Husbands of positive women were also tested to find out couples on risk.Results: Out of 400 antenatal women screened, 46 required HbA2 estimation, and 11 (2.8%) were diagnosed as ?-thalassemia minor positive. Most of thalassemia minor positive women were primigravida and mean (SD) age and gestational age of these women was 23.8 (3.1) years and 11.8 (1.7) weeks, respectively. Amongst thalassemia minor positive women most were mild to moderately anemic and these women had significantly greater mean TRBC count. Ninety one percent of thalassemia minor positive women had MCV<77. All of thalassemia minor positive women had MCH<27. Eighty two percent of thalassemia minor positive women had MI<13. None of couple at-risk was detected. So, prevalence of thalassemia carrier was 2.8%.Conclusions: Thalassemia is a monogenetic disorder with autosomal recessive streak. Universal screening in antenatal window by complete blood counts, hematological indices (MCV, MCH, TRBC), Mentzer index and HPLC may lead to non-pyrrhic victory over this odious entity.
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Pleomorphic adenoma is the most common salivary gland tumor accounting for 80% of all major salivary gland tumors. It is a benign salivary gland neoplasm that constitutes 3% to 10% of the neoplasms in the head and neck region.1 Salivary gland neoplasms represents less than 1% of all tumors. This article is being showcased as a special case due to the fact it was done at a Taluk Hospital and also because ENT and oromaxillofacial surgeons were involved during the surgery.
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Pleomorphic adenoma (PA) is the most common benign tumor of major salivary glands and intra nasal PA is unusual which may be misdiagnosed as malignancy. A 65-year-old female presented with unilateral nasal bleeding and nasal obstruction in right nasal cavity for 6 months. Local examination showed polypoid mass which surgically excised. HPE showed classic triphasic component of epithelial, myoepithelial with cartilaginous stromal elements and pathological diagnosis of PA made. High cellularity of tumor and predominant squamous epithelial component with keratin pearl created diagnostic confusion of malignancy and it confirmed by immune-histochemistry using p63 to demonstrate presence of myoepithelial component. Highlighted this case report for its unusual location and rare triphasic component of tumor tissue with keratin pearl formation which mimic as malignancy.
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Objective: Minor constriction which is the narrowest diameter is considered to be the appropriate apical limit of endodontic treatment. Apex locators provide greater precision, fewer procedural errors, less discomfort to the patient during measurement of working length. The aim of this article is to compare the accuracy of four electronic apex locators in detecting the apical constriction using histological sections as the gold standard. 80Materials and Methods: extracted single-rooted permanent teeth were selected and coronally flattened for stable reference point. Access cavity was prepared and canal patency was checked. Samples were embedded in alginate upto cemento-enamel junction. Working length was determined with the apex locators. A 15 K file adjusted to that reading was placed in the root canal and stabilized with flowable composite. Apical 4 mm of root was longitudinally sectioned and the position of the file in relation to the minor constriction was recorded for each tooth under stereomicroscope at 40X magnification. Chi-square test was carried out to test the difference in accuracy at various levels from the minor foramen. Kruskal Wallis Test was carried out to compare the differences between the study groups for the distance from the tip of the file relative to the minor foramen (P<0.05). Measurements of mean working lengths within ±0.5 mm of minor diameter were 85%Results: acceptable for CanalPro followed by Root ZX Mini (80%) and Propex Pixi (80%) and the least by DPEX V (65%). Conclusion: Accuracy of these instruments for detecting the minor diameter is acceptable for clinical practice
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Necrotizing sialometaplasia (NS) is a rare benign reactive necrotizing in?ammatory process that affects the minor salivary gland and frequently mimics cancer on both a clinical and histopathological level. Case Study : We report the case of a 21-year-old healthy man who had throat pain and non-healing ulcer over soft palate for the past one month, with pain during swallowing.Histopathological analysis and an incisional biopsy were performed on the patient. Necrotizing sialometaplasia was the histologically determined diagnosis. Necrotizing sialometaplasia is a self-limiting disorder of salivary glands mostly affecting the hard palate.The duration of the healing process is usually related to the size of the lesion.The recurrence rate of Necrotizing Sialometaplasia is low.Even a full thickness palatal lesion heals completely within 6 months.
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Human leukocyte antigen (HLA) is a product encoded by HLA gene complex, which is located on the short arm of chromosome 6 and is the main target of alloimmunity. However, positive HLA antibody is not responsible for all kinds of rejections in kidney transplantation. Non-HLA antibody is the product of donor gene expression in allogeneic kidney transplantation. Intraoperative ischemia-reperfusion injury, the interaction between alloimmunity and autoimmunity and the mediation of extracellular vesicles may trigger immune system response and promote the production of non-HLA antibody. Multiple studies have demonstrated that non-HLA antibody is an important factor of inducing rejection and affecting the outcomes of kidney transplantation. Consequently, the types and formation mechanism of non-HLA antibody in kidney transplantation were reviewed, and research progress on kidney transplantation rejection associated with non-HLA antibody was summarized, aiming to provide reference for in-depth study of kidney transplantation rejection associated with non-HLA antibody.
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@#Objective To design an interactive and shared electronic database for long-term follow-up management of patients with acute minor stroke (NIHSS≤5) using REDCap,and to explore the value of establishing this database,trying to provide new ideas for clinical treatment. Methods The CRF table of case report was designed according to the relevant data of patients in hospital and the requirements of follow-up management. The nosocomial case data of patients with acute minor stroke (NIHSS≤5) from 3 stroke centers in Shanxi Province were collected and recorded on the CRF form of case reports. An interactive shared electronic database was designed by REDCap,and the data in CRF table were checked and revised and entered into the database. Patients were followed up at 3 months and 1 year after onset. Results Based on REDCap system,a database of acute minor stroke ( NIHSS≤5) in Shanxi Province was established and used in clinical practice. The number of patients expected to be included has been achieved. Its data entry,data quality control,user rights management and data export functions can be stable operation. Conclusion The interactive sharing clinical database of acute minor stroke ( NIHSS≤5) is established by redcap,which has the advantages of simple interface operation,convenient communication,timely entry,and multi-access. It provides a powerful tool for longitudinal data collection,reducing deviation in research,and comprehensively implementing and coordinating project research. It ensures the reliability of research results and has clinical research value.
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This article reported the prenatal diagnosis of a fetus with ZTTK syndrome. A pregnant woman underwent preimplantation genetic diagnosis because her partner carried a balanced chromosomal translocation. Chromosomal karyotype analysis and copy number variation sequencing (CNV-seq) performed on amniocytes collected at 18 + weeks of gestation revealed no abnormalities. Ultrasonography performed at 23 +5 and 26 +3 weeks of gestation revealed severe fetal growth restriction, cerebellar dysplasia, poorly visualized sacrum and coccyx, and spina bifida. MRI of the fetal brain showed that the bilateral cerebellar hemispheres of the fetus were small and the cisterna magna was large at 23 +6 weeks of gestation. Whole exome sequencing in the pedigree identified a heterozygous variant c.2092delG (p.Glu698fs*4) in the exon 3 of the fetal SON gene, which was not inherited from the parents and proved to be a de novo mutation. Mutations in the locus are pathogenic, causing ZTTK syndrome. After genetic counseling, the pregnant woman and her family chose to terminate the pregnancy.