OBJECTIVE: The VACTERL association or Syndrome consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis relies on the presence of at least three of these structural abnormalities. This study reports a single case of a patient with VACTERL Syndrome (VS), aiming to assist dentists in recognizing the general aspects, systemic changes, and oral care related to this condition.
METHODS: A 14-year-old female patient medically diagnosed with VS. The study evaluated the presence of systemic alterations, medication use, behavioral deviations, cognitive development, and oral aspects. The patient exhibited cardiovascular alterations including a ventricular septal defect (C), anal atresia (A), polydactyly (considered limb alteration-L), and scoliosis (a possible indication of vertebral anomalies-V). In the intraoral examination, findings included tooth crowding, enamel hypomineralization in several teeth, a deep and atretic palate, generalized gingivitis, bleeding, gingival hyperplasia, Class III malocclusion, and a right unilateral crossbite.
CONCLUSIONS: Patients diagnosed with VACTERL syndrome experience significant systemic impairments. The research subject presented compromised oral health, challenges in dental management, delays in neuropsychomotor development, though these are not inherent to the syndrome. It is crucial to prevent oral diseases and provide early dental care for these patients to avoid the need for complex and invasive dental treatments due to systemic impairments.

Low-density lipoprotein receptor-related protein 6 (LRP6) is a co-receptor of the Wnt signaling pathway, which plays an essential role in various biological activities during embryonic and postnatal development. LRP6 is exceptionally associated with rare diseases and always with autosomal dominant inheritance. Here we report a familial phenotype of high bone mass associated with skeletal anomalies and oligodontia but also persistent left superior vena cava, inguinal hernia, hepatic cysts, abnormal posterior fossa and genital malformations. Molecular analysis revealed a novel heterozygous variant, NM_002336.2: c.724T>C, p.(Trp242Arg), in affected individuals. This variant is located in the first β-propellant motif of LRP6, to which sclerostin (SOST) and dickkopf1 (DKK1), two LRP6 co-receptor inhibitors and various Wnt ligands bind. According to the literature and integrating data from structural analysis, this variant distorts the binding of SOST and DKK1, thus leading to overactivation of Wnt signaling pathways involved in osteoblast differentiation. This novel heterozygous variant in LRP6 underlies the role of LRP6 in skeletal and dental disorders as well as, probably, cardiac, cerebral and genital developments.

OBJECTIVE: The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic.
METHODS: We retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher\'s exact test was conducted to investigate potential risk factors.
RESULTS: There were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases).
CONCLUSIONS: Anal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.

We describe a seven-month-old boy with tetralogy of Fallot and an absent left pulmonary artery. Due to the diminutive size of the left pulmonary artery, we performed a native tissue left pulmonary artery reconstruction and intrapulmonary artery septation procedure with a left modified Blalock-Taussig shunt. After confirming left pulmonary artery growth, the patient underwent tetralogy of Fallot repair, removal of septation patch, and division of the Blalock-Taussig shunt. Nine months post-surgery, we confirmed his balanced lung perfusion (R/L ratio 6:4). The intrapulmonary artery septation procedure would be suitable for both the resuscitation and reconstruction of the hypoplastic absent pulmonary artery.

UNASSIGNED: Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features. Duplication of 4q is presented with minor to severe ID, MIC and facial dysmorphism. We aimed to verify the correlation between genotype/phenotype in a patient with 1q43q44 deletion associated with 4q32.1q35.2 duplication.
UNASSIGNED: We report on a 3 year-old female patient with delayed motor and mental milestones, MIC and facial dysmorphism. She is a child of non-consanguineous parents and no similarly affected family members. CT brain showed abnormal gyral patterns, hypogenesis of corpus callosum and bilateral deep Sylvian fissure. Electroencephalogram showed frontotemporal epileptogenic focus. Her karyotype was revealed as 46,XX,add(1)(q44). Fluorescence in situ hybridization (FISH) using whole chromosome paint (WCP1) and subtelomere 1q revealed that the add segment was not derived from chromosome 1 and there was the deletion of subtelomere 1q. Multiple ligation probe amplification (MLPA) subtelomere kit revealed the deletion of 1q and duplication of 4q. Array CGH demonstrated the 6.5 Mb deletion of 1q and 31 Mb duplication of chromosome 4q.
UNASSIGNED: The phenotype of our patient mainly reflects the effects of haploinsufficiency of AKT3, HNRNPU, ZBTB18 genes associated with duplication of GLRA3, GMP6A, HAND2 genes. Patients presented with ID, seizures, MIC together with CCA are candidates for prediction of 1q43q44 microdeletion and cytogenomic analysis.

Choanal atresia is a rare malformation that represents a special challenge. While bilateral choanal atresia usually needs to be surgically treated within a few days of birth, the intervention for one-sided choanal atresia can be postponed for years. Treatment planning requires adequate imaging (CT or MRI), which also serves to exclude other skull base malformities. Surgical treatment currently focuses on transnasal endoscopic techniques. Simultaneous resection of the parts of the vomer involved in the atresia seems to be important surgical success. Postoperative stenting is still controversially discussed. Postoperative application of corticosteroid nasal sprays and saline nasal rinsing for several weeks is of great importance. Due to the rarity of the diagnosis, the absence of prospective randomized controlled trials does not allow definitive statements regarding the optimal surgical technique or stenting.

Cancers that occur in families more often than would be expected by chance are termed as familial cancers. They occur due to an inherited genetic mutation and account for 5%-10% of all cancers. This review article presents some of the common Familial Cancer Syndromes (FCS) such as MEN 2B, hyperparathyroidism-jaw tumour syndrome, familial oral squamous cell carcinoma, melanoma, nasopharyngeal carcinoma, paraganglioma, neurofibroma and other syndromes associated with head and neck region.

We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin-Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially reported in two brothers in 1990, with a third patient reported in 2003. Our first patient was subsequently found through exome sequencing to have a de novo mutation in KAT6B, c.4572dupT, p.(Thr1525Tyrfs*16). The second patient was ascertained as possible LGS, but KAT6B mutation testing was pursued clinically after the identification of the KAT6B mutation in Patient 1, and identified a de novo mutation, c.4205_4206delCT, p.(Ser1402Cysfs*5). The phenotypic spectrum of KAT6B mutations has been expanding since identification of KAT6B mutations in genitopatellar syndrome (GPS) and Say Barber Biesecker Young Simpson (SBBYS) syndrome patients. We show that craniosynostosis, which has not been previously reported in association with KAT6B mutations, may be part of the genitopatellar/Say Barber Biesecker Young Simpson spectrum. These two patients also further demonstrate the overlapping phenotypes of genitopatellar and SBBYS syndromes recently observed by others. Furthermore, we propose that it is possible that one or more of the previous cases of LGS may have also been due to mutation in KAT6B, and that LGS may actually be a variant within the KAT6B spectrum and not a distinct clinical entity.

We present the case of a 19-day-old girl with incomplete atrioventricular septal defect, muscular ventricular septal defect, and severe left atrioventricular valve regurgitation. We attempted biventricular repair with left atrioventricular valve repair; however, we could not control the regurgitation. Moreover, the commercially available prosthetic valve was too large to implant. Thus we switched intraoperatively to a univentricular repair. We successfully performed patch closure of the left atrioventricular valve (Starnes procedure), Damus-Kaye-Stansel anastomosis, and a systemic-to-pulmonary artery shunt.

OBJECTIVE: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center.
METHODS: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome.
RESULTS: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome.
CONCLUSIONS: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.