OBJECTIVE: To assess the diagnostic value of whole exome sequencing (WES) for fetuses undergone induced abortion due to structural abnormalities. METHODS: A retrospective analysis was carried out on 43 aborted fetuses with negative results for copy number variation (CNV) testing from January 2023 to June 2024 at Northwest Women's and Children's Hospital. Trio-WES was carried out on the tissues from the aborted fetuses. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 21-036). RESULTS: Among the 43 abortic fetuses, WES has detected pathogenic variants in 15 cases, with a total of 9 pathogenic variants, 5 suspected pathogenic variants, and 5 variants of uncertain significance. No definite pathogenic variants were detected in the remaining 28 cases. CONCLUSION For fetuses with structural abnormalities and negative results from CNV testing, WES can increase the diagnostic rate and facilitate etiological diagnosis and genetic counseling.
Humans ; Female ; Exome Sequencing/methods* ; Pregnancy ; DNA Copy Number Variations/genetics* ; Retrospective Studies ; Adult ; Prenatal Diagnosis/methods* ; Abortion, Induced ; Fetus/abnormalities* ; Congenital Abnormalities/diagnosis* ; Genetic Testing ; Aborted Fetus/abnormalities*

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40–50%), SOS1 (10–20%), RAF1 (3–17%), and RIT1 (5–9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.
Congenital Abnormalities ; Costello Syndrome ; Diagnosis ; Ectoderm ; Electrocardiography ; Genitalia ; Genotype ; Heart Diseases ; Humans ; Hypertelorism ; Intellectual Disability ; Lentigo ; Noonan Syndrome ; Panthera ; Protein Kinases ; Puberty, Delayed ; Pulmonary Valve Stenosis ; Thorax

Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the aorta. Incomplete forms with 2 or 3 of these lesions in adult patients have been rarely reported in the literature, meaning that insufficient general data exist concerning the surgical strategy and clinical follow-up. Herein, we report the case of a 31-year-old woman with a diagnosis of incomplete form of Shone complex with parachute mitral valve and coarctation of the aorta who underwent successful single-stage surgical repair.
Adult ; Aortic Coarctation ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Constriction, Pathologic ; Diagnosis ; Female ; Follow-Up Studies ; Heart ; Heart Defects, Congenital ; Humans ; Mitral Valve

Relapsing polychondritis (RP) is a rare autoimmune disorder of unknown etiology characterized by recurrent episodes of inflammation and the destruction of cartilaginous tissues, primarily involving the ear, nose, and the respiratory tract. Nasal chondritis is present in 24% of patients at the time of diagnosis and develops subsequently in 53% throughout the diseases progress. Progressive destruction of nasal cartilage leads to the characteristic flattening of the nasal bridge, resulting in the saddle nose deformity. In patients with RP, surgical management for saddle nose is carefully decided due to the disease relapsing characteristics. We present a RP patient with a saddle nose deformity who underwent reconstruction rhinoplasty with autologous costal cartilage grafting. At 6-month follow-up, the patient retained good esthetic results and showed neither complication nor relapse of RP.
Congenital Abnormalities ; Costal Cartilage ; Diagnosis ; Ear ; Follow-Up Studies ; Humans ; Inflammation ; Nasal Cartilages ; Nose ; Polychondritis, Relapsing ; Recurrence ; Respiratory System ; Rhinoplasty ; Transplants

Fibrous dysplasia (FD) is a non-malignant bone tumor that typically behaves as a slow and indolent growing mass lesion. We report the case of a female patient presenting with headache and facial deformity and later diagnosed with polyostotic fibrous dysplasia (PFD). A 29-year-old woman visited Mealhada Primary Health Care Unit complaining of headache, nasal congestion, and hyposmia for several weeks. She also presented with facial deformity and painful swelling of the upper left orbit. X-ray imaging revealed a suspicious opacity in the left frontal sinus and a right shift of the nasal septum. Computed tomography and bone scintigraphy later confirmed a tumor involving the ethmoid and frontal bone. The patient was referred to the neurosurgery and otorhinolaryngology departments of a central hospital and the suspected diagnosis of PFD was confirmed. A watchful waiting approach with regular imaging screenings was proposed and accepted by the patient, who is now free of symptoms and more acceptant of the benign condition of her tumor. With this case, we aim to make family physicians more aware of this rare but relevant condition that can be difficult to diagnose. FD is a rare but benign tumor that occurs mainly in adolescents and young adults. Symptoms depend on the location and type of the tumor and include facial deformity, vision changes, nasal congestion, and headache. No clear guidelines exist for its treatment, and options include monitoring the progression of the tumor, in addition to medical or surgical approaches.
Adolescent ; Adult ; Bone Neoplasms ; Congenital Abnormalities ; Diagnosis ; Estrogens, Conjugated (USP) ; Female ; Fibrous Dysplasia of Bone ; Fibrous Dysplasia, Polyostotic* ; Frontal Bone ; Frontal Sinus ; Headache ; Humans ; Mass Screening ; Nasal Septum ; Neurosurgery ; Orbit ; Otolaryngology ; Physicians, Family ; Primary Health Care* ; Radionuclide Imaging ; Watchful Waiting ; Young Adult

Cervical kyphosis is a rare condition that can cause significant functional disability and myelopathy. Deciding the appropriate treatment for such deformities is challenging for the surgeon. Patients often present with axial neck pain, and it is not uncommon to find coexisting radiculopathy or myelopathy. The optimal approach for addressing this complex issue remains controversial. A comprehensive surgical plan based on knowledge of the pathology and biomechanics is important for kyphosis correction. Here we reviewed diagnoses of the cervical spine along with the literature pertaining to various approaches and management of cervical spine.
Congenital Abnormalities ; Diagnosis ; Humans ; Kyphosis ; Neck Pain ; Pathology ; Radiculopathy ; Spinal Cord Diseases ; Spine

“Saber-sheath” trachea is a deformity of lower cervical or intrathoracic trachea. The configuration of the deformity is marked coronal narrowing associated with sagittal widening. This deformity is associated with chronic obstructive pulmonary disease. We report a case of patient with saber-sheath who underwent total laryngectomy. Although the patient had no tracheal collapse after the total laryngectomy, crusted discharge was increased. Diagnosis of the saber-sheath trachea, possible causes, and clinical implications are discussed.
Congenital Abnormalities ; Diagnosis ; Humans ; Laryngectomy ; Pulmonary Disease, Chronic Obstructive ; Trachea

Secondary nail deformities are often seen at some time after fingertip and nail bed injuries. A proper evaluation of the fingernail enables appropriate diagnosis and treatment, especially in patients who need surgical management. To date, ultrasound and magnetic resonance imaging are the only diagnostic tools that most surgeons use in cases of nail deformities. Herein, we report the case of a patient with a nail deformity who underwent successful correction based on the preoperative use of real-time optical coherence tomography.
Congenital Abnormalities* ; Diagnosis ; Humans ; Magnetic Resonance Imaging ; Nails ; Reconstructive Surgical Procedures ; Surgeons ; Tomography, Optical Coherence* ; Ultrasonography

PURPOSE: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. MATERIALS AND METHODS: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. RESULTS: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. CONCLUSION: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.
Chromosome Aberrations ; Congenital Abnormalities ; Counseling ; Diagnostic Tests, Routine ; Down Syndrome ; Female ; Humans ; Nuchal Translucency Measurement ; Pregnancy* ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography*

Caroli disease is a rare congenital disorder characterized by nonobstructive dilatation of intrahepatic ducts. In cases with symptomatic intrahepatic manifestations, treatment should correspond to the type with hepatic resection for localized disease and transplantation for diffuse forms. If possible, complete resection of the cysts can cure the symptoms and avoid the risk of malignancy. A 66-year-old woman presented to Wuxi Xishan People's Hospital with recurrent intermittent upper quadrant abdominal pain. Further examinations suggested the diagnosis of Caroli disease limited to the left hepatic lobe. She underwent laparoscopic hepatectomy. Pathological examination confirmed the diagnosis of Caroli disease, and no malignancy was found. There were no immediate complications and no long-term complications after one and one-half years of follow-up. Laparoscopic hepatectomy could be a feasible, safe treatment option for localized Caroli disease.
Abdominal Pain ; Aged ; Caroli Disease* ; Cholecystectomy ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diagnosis ; Dilatation ; Female ; Follow-Up Studies ; Hepatectomy* ; Humans ; Laparoscopy