Epidemiology of congenital upper limb anomalies in Korea: A nationwide population-based study

This study aimed to analyze the epidemiology of congenital upper limb anomalies (CULA) in Korea. We evaluated the incidence of each type of CULA, the presence of coexisting anomalies and the surgical treatment status in CULA patients. We conducted a retrospective cohort study of patients aged < 1 year between 2007 and 2016 who were registered with CULA in the Health Insurance Review and Assessment Service of Korea. In total, 10,704 patients had CULA, including 6,174 boys (57.7%) and 4,530 girls (42.3%). The mean annual incidence of CULA was 23.5 per 10,000 live births; it was significantly higher in boys than in girls (26.3 vs. 20.5, p < 0.001). Among the four categories of CULA—polydactyly, syndactyly, limb deficiency, and other anomalies—polydactyly was the most common. In total, 4,149 patients (38.8%) had other congenital anomalies and coexisting anomalies of the circulatory system (24.9%) were the most common. In total 4,776 patients (44.6%) underwent operative treatment for CULA within minimum three years of the diagnosis. The proportion of patients who underwent surgical treatment was significantly higher for polydactyly (73.4% vs. 16.8%, p < 0.001) and syndactyly (65.3% vs. 41.5%, p < 0.001), but it was significantly lower in limb deficiency (27.6% vs. 45.4%, p < 0.001) and other anomalies (10.0% vs. 69.8%, p < 0.001) than rest of CULA patients. Among the patients who had operations, 21.5% underwent multiple operations. The proportion of patients who underwent multiple operations was significantly higher in syndactyly (35.6% vs. 18.1%, p < 0.001), but it was significantly lower in polydactyly (4.0% vs. 95.5%, p < 0.001) and other anomalies (17.9% vs. 21.9%, p < 0.001) than rest of CULA patients. These results could provide a basis for estimating the national healthcare costs for CULA and the required number of CULA specialists.

Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects

The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. In this report, we describe a newborn girl with paralysis of abducens and facial nerves, transverse agenesis of the distal segments of the limbs, micrognathia, cleft lip and palate, and ankyloglossia superior. This observation confirms an overlap between Moebius syndrome and ankyloglossia superior syndrome with severe limb defects. The etiology of the OLHS is not clearly understood. The intriguing link between facial and limb anomalies can result from their simultaneous development from the fourth to eighth week of gestation, making both areas susceptible to the same teratogenic stimuli. There is an overlap between OLHS conditions, supporting a clustering, rather than a divided nosology and requiring an appropriate classification of these conditions. Patients with OLHS can be successfully managed using a multidisciplinary approach.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes

IntroductionPathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entity, but the distinction between Greig syndrome and PPD4 is less evident. Using latent class analysis (LCA), our study aimed to investigate the correlation between reported limb anomalies and the reported GLI3 variants in these GLI3-mediated polydactyly syndromes. We identified two subclasses of limb anomalies that relate to the underlying variant.MethodsBoth local and published cases were included for analysis. The presence of individual limb phenotypes was dichotomised and an exploratory LCA was performed. Distribution of phenotypes and genotypes over the classes were explored and subsequently the key predictors of latent class membership were correlated to the different clustered genotypes.Results297 cases were identified with 127 different variants in the GLI3 gene. A two-class model was fitted revealing two subgroups of patients with anterior versus posterior anomalies. Posterior anomalies were observed in cases with truncating variants in the activator domain (postaxial polydactyly; hand, OR: 12.7; foot, OR: 33.9). Multivariate analysis supports these results (Beta: 1.467, p=0.013 and Beta: 2.548, p<0.001, respectively). Corpus callosum agenesis was significantly correlated to these variants (OR: 8.8, p<0.001).ConclusionThere are two distinct phenotypes within the GLI3-mediated polydactyly population: anteriorly and posteriorly orientated. Variants that likely produce haploinsufficiency are associated with anterior phenotypes. Posterior phenotypes are associated with truncating variants in the activator domain. Patients with these truncating variants have a greater risk for corpus callosum anomalies.

First Description of Factors Influencing the Outcome of Developmental Dysplasia of the Hip in Children’s Medical Center

Background: There are several factors may have an impact on the prognosis of developmental dysplasia of the hip (DDH). They may change the outcome and treatment if they are present in a patient. Objectives: The objective of this study is to determine the association of those factors with the outcome. Patients and Methods: The study was performed on 74 infants with DDH in Children’s Medical Centre. After obtaining informed consent and ethical approval, patients with DDH confirmed by ultrasound were included, and possible risk factors including severity of DDH based on the Graf criteria, follow-up length, age, gender, laterality, type of delivery, amniotic fluid index, fetal anomalies, birth order of children, and methods of treatment were collected and compared against treatment response. Results: There were 58 female and 19 male patients with a mean age of 6.54 weeks. Bilateral DDH was found in 31 females and nine males. The average alpha and beta angles were 53.19 ± 5.7 and 66.53 ± 6.6 degree, respectively. The severity of DDH had a significant association with treatment response (P = 0.003). Recovery was better in females than in males (P = 0.031). In addition, the first‐born infants had a better response (P = 0.001). A meaningful connection (P = 0.01) was noted between the amniotic fluid index as well as renal/limb anomalies and treatment response. Type of delivery (cesarean versus vaginal) or fetal presentation had no significant association with treatment response (P > 0.05). Conclusion: Factors with a negative impact on DDH outcomes include the severity of DDH, male gender, higher birth order, oligohydramnios, renal and limb anomalies.

VACTERL Association in a Newborn – A Rare Case Report

Syndrome or association VACTERL is a group of several birth defects of congenital anomalies in an individual. There must be at least 3 anomalies simultaneously for this syndrome to be referred, including spinal anomalies, anorectal anomalies, cardiac disorders, esophageal atresia with tracheoesophageal fistula, renal anomaly and limb anomalies. The organs involvement in VACTERL may present different severity and quality, from asymptomatic to life-threatening cases. Various studies have reported the other congenital associations such as cerebrovascular and pulmonary anomalies in addition to the above-mentioned called as the non-VACTERL association. The patient in this study had all 6 VCTERL syndrome criteria. The feature of this patient was the involvement of his limb and kidney anomaly, which were different on both sides. However, in previously reported cases, these two anomalies were both in one direction and on the same side. Finally, the VACTERL syndrome and Non-VACTERL Association in this patient represented in the form of esophageal atresia with trachea esophageal fistula and atrial septal defect, and the presence of a kidney with severe hydronephrosis and sacral agenesis and imperforated anus, recto vesical fistula and limb anomalies in the form of one-phalanx fingers on the left.