Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.

Polydactyly, which is the presence of an extra appendage on the hand or the foot, is a common congenital anomaly encountered in children. It may be an isolated finding or found in conjunction with other congenital anomalies and syndromes. Polydactyly can occur in the hands or the feet. In the hand, it may occur as radial polydactyly (pre-axial polydactyly) or ulnar polydactyly (post-axial polydactyly (PAP)). Depending upon the side of occurrence, it may be medial, that is, toward the little finger (called ulnar polydactyly) or lateral, that is, toward the thumb (called radial polydactyly). On the feet, the extra digit can either be present on the side of the great toe (called tibial polydactyly) or on the side of the little toe (called fibular polydactyly). In both the upper and the lower limbs, affection of the central three digits is called central polydactyly. Central tetrapolydactyly, which is the presence of an extra appendage on all four limbs, is much more rarely encountered. This case report describes a 15-month-old female child who presented with findings of six digits on all four limbs and deviation of the left angle of mouth since birth. Her echocardiography showed a large atrial septal defect measuring 7 mm, with a left-to-right shunt. This is the first such case reported from all over the world from a tertiary care hospital with the aforementioned findings. Polydactyly, a very common congenital anomaly, should not be ignored in pediatric settings. It is important to diagnose associated features such as congenital heart diseases (CHDs), genitourinary abnormalities, and orofacial abnormalities to facilitate timely surgical correction and help improve the quality of life of those affected.

Co-occurrence of Attention-Deficit/Hyperactivity Disorder and Septo-Optic Dysplasia: A Neurodevelopmental Case Report.

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, brain midline structure anomalies, and hypothalamic-pituitary axis hypoplasia. This case report aims to highlight the association between SOD and neurodevelopmental disorders, focusing on attention-deficit/hyperactivity disorder (ADHD) in addition to the well-established link with autism spectrum disorder (ASD). A six-year-old male diagnosed with SOD presented with behavioral concerns, including attention and impulse control issues. A comprehensive psychological evaluation confirmed the diagnosis of ADHD and ruled out ASD. Ophthalmological assessments were integral to understanding the patient's condition. This case underscores the importance of recognizing neurodevelopmental disorders in individuals with SOD, with a particular focus on the less common association with ADHD. The co-occurrence of these conditions underscores the complexity of neurodevelopmental disorders and the need for comprehensive evaluation and management. Collaboration between ophthalmologists and mental health specialists is crucial for addressing the diverse needs of these patients. Early identification and intervention for ADHD are essential for optimal developmental outcomes. This case underscores the necessity for further research to elucidate the relationship between SOD and ADHD, emphasizing the importance of holistic patient care and interdisciplinary collaboration in managing individuals with SOD spectrum conditions.

Association between usage of household cooking fuel and congenital birth defects-18 months multi-centric cohort study in Nepal.

BACKGROUND: - An estimated 240,000 newborns die worldwide within 28 days of birth every year due to congenital birth defect. Exposure to poor indoor environment contributes to poor health outcomes. In this research, we aim to evaluate the association between the usage of different type household cooking fuel and congenital birth defects in Nepal, as well as investigate whether air ventilation usage had a modifying effect on the possible association. METHODS: - This is a secondary analysis of multi-centric prospective cohort study evaluating Quality Improvement Project in 12 public referral hospitals of Nepal from 2017 to 2018. The study sample was 66,713 women with a newborn, whose information was available in hospital records and exit interviews. The association between cooking fuel type usage and congenital birth defects was investigated with adjusted multivariable logistic regression. To investigate the air ventilation usage, a stratified multivariable logistic regression analysis was performed. RESULTS: -In the study population (N = 66,713), 60.0% used polluting fuels for cooking and 89.6% did not have proper air ventilation. The prevalence rate of congenital birth defect was higher among the families who used polluting fuels for cooking than those who used cleaner fuels (5.5/1000 vs. 3.5/1000, p < 0.001). Families using polluting fuels had higher odds (aOR 1.49; 95% CI; 1.16, 1.91) of having a child with a congenital birth defect compared to mothers using cleaner fuels adjusted with all available co-variates. Families not using ventilation while cooking had even higher but statistically insignificant odds of having a child with congenital birth defects (aOR 1.34; 95% CI; 0.86, 2.07) adjusted with all other variates. CONCLUSION: - The usage of polluted fuels for cooking has an increased odds of congenital birth defects with no significant association with ventilation. This study adds to the increasing knowledge on the adverse effect of polluting fuels for cooking and the need for action to reduce this exposure.

Microsurgical Salvage of Neonatal Upper Limb Ischaemia Following Intrauterine Brachial Vessel Constriction.

Neonatal limb ischaemia is a rare disease entity with devastating morbidity, including compartment syndrome, tissue loss, limb loss, reduced limb growth, irreparable neuropathies and Volkmann's syndrome.  We report a case of limb revascularisation and salvage due to intrauterine brachial artery thrombosis. Published literature is limited to case reports and case series, with various treatment modalities discussed. Early recognition, prompt institution of appropriate treatment and monitoring is vital to achieve successful revascularisation and prevention of life-long morbidity. A male baby at (36+6week) gestation was born to a nulliparous mother with gestational diabetes via uncomplicated elective caesarean section. Aetiology was due to dense fibrotic circumferential constriction of the brachial vessels and plexus. Successful revascularization was achieved with a contralateral interposition reversed great saphenous vein graft.  Though extremely rare and the clinical presentation varies with the location and timing after birth, the surgeon should maintain a low threshold for suspicion of in the presence of the characteristic sequelae of ischaemia. Doppler ultrasonography can aid the diagnosis where ambiguous, and therapy should be individualised based on the clinical presentation; this case emphasises the role of surgery in limb salvage.

The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model.

High incidence of chronic otitis media is associated with human craniofacial syndromes, suggesting that defects in the formation of the middle ear and associated structures can have a knock-on effect on the susceptibility to middle ear inflammation. Patients with branchio-oto-renal (BOR) syndrome have several defects in the ear leading to both sensorineural and conductive hearing loss, including otitis media. 40% of BOR syndrome cases are due to Eya1 haploinsufficiency, with mouse models affecting Eya1, mimicking many of the defects found in patients. Here, we characterize the onset, consequences, and underlying causes of chronic otitis media in Eya1 heterozygous mice. Cavitation defects were evident in these mice from postnatal day (P)11 onwards, with mesenchyme around the promontory and attic regions of the middle ear space. This mesenchyme was still prominent in adult Eya1 heterozygous mice, while the wild-type littermates had fully aerated ears from P14 onwards. MicroCT analysis highlighted a significantly smaller bulla, confirming the link between bulla size defects and the ability of the mesenchyme to retract successfully. Otitis media was observed from P14, often presenting unilaterally, resulting in hyperplasia of the middle ear mucosa, expansion of secretory cells, defects in the motile cilia, and changes in basal epithelial cell markers. A high incidence of otitis media was identified in older mice but only associated with ears with retained mesenchyme. To understand the impact of the environment, the mouse line was rederived onto a super-clean environment. Cavitation defects were still evident at early stages, but these generally resolved over time, and importantly, no signs of otitis media were observed at 6 weeks. In conclusion, we show that a small bulla size is closely linked to defects in cavitation and the presence of retained mesenchyme. A delay in retraction of the mesenchyme predates the onset of otitis media, making the ears susceptible to its development. Early exposure to OM appears to exacerbate the cavitation defect, with mesenchyme evident in the middle ear throughout the animal's life. This highlights that permanent damage to the middle ear can arise as a consequence of the early onset of OM.

Hemimegalencephaly: Evolution From an Atypical Focal Early Appearance on Fetal MRI to More Conventional MR Findings.

Hemimegalencephaly, or unilateral megalencephaly, is a sporadic congenital brain malformation characterized by enlargement of a cerebral hemisphere due to an abnormal proliferation of neurons or glial cells. Hemimegalencephaly is part of a spectrum of disorders, increasingly referred to as mTORopathies, which arise as a result of dysregulation or hyperactivation of the mammalian target of rapamycin (mTOR)-signaling cascade resulting in less restricted cell growth and survival. The resultant cortical disorganization and enhanced neuronal excitability often manifest clinically in the form of seizures. Ultrasound and magnetic resonance imaging (MRI) are often used to characterize hemimegalencephaly. Typical imaging findings seen include diffuse unilateral enlargement of a cerebral hemisphere with overlying cortical malformation and ipsilateral dilation of the lateral ventricle. This paper will review an unusual case of focal hemimegalencephaly diagnosed on prenatal imaging. Initial in utero MRI revealed a mass-like lesion in the frontal lobe without associated perilesional cerebral edema. Keying in on abnormalities within the overlying cortex was crucial in suggesting focal hemimegalencephaly as a leading diagnosis and distinguishing it from alternative diagnoses such as a neoplasm. Follow-up fetal MRI demonstrated the evolution of the cerebral abnormality and confirmed the diagnosis. Early diagnosis facilitated appropriate counseling of the parents and guided postnatal imaging and management.

Variant analyses of candidate genes in orofacial clefts in multi-ethnic populations.

OBJECTIVES: Cleft lip with/without cleft palate and cleft palate only is congenital birth defects where the upper lip and/or palate fail to fuse properly during embryonic facial development. Affecting ~1.2/1000 live births worldwide, these orofacial clefts impose significant social and financial burdens on affected individuals and their families. Orofacial clefts have a complex etiology resulting from genetic variants combined with environmental covariates. Recent genome-wide association studies and whole-exome sequencing for orofacial clefts identified significant genetic associations and variants in several genes. Of these, we investigated the role of common/rare variants in SHH, RORA, MRPL53, ACVR1, and GDF11. MATERIALS AND METHODS: We sequenced these five genes in 1255 multi-ethnic cleft lip with/without palate and cleft palate only samples in order to find variants that may provide potential explanations for the missing heritability of orofacial clefts. Rare and novel variants were further analyzed using in silico predictive tools. RESULTS: Ninteen total variants of interest were found, with variant types including stop-gain, missense, synonymous, intronic, and splice-site variants. Of these, 3 novel missense variants were found, one in SHH, one in RORA, and one in GDF11. CONCLUSION: This study provides evidence that variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts in various populations.

A Cross-Sectional Study: Are Myths on Cleft Lip and Palate Still Prevalent?

Background The etiology of cleft lip and palate (CL/P) remains largely unidentified. Evidence-based research shows a strong association with genetics, environmental factors, nutritional deficiency, smoking, alcohol, and drug misuse. Despite the increase in knowledge and widespread access to medical care beliefs contrary to science, folklores on CLP still occur in most developing countries. Methodology The study design was cross-sectional in nature and involved a sample of 136 parents of children with cleft lip and palate reporting to Smile Train Cleft Centers. It was conducted by using a self-structured questionnaire from December to March 2019. Results The highest recorded response was holding sharp objects, such as knives, scissors, or needles, during pregnancy (40.4%) and the least recorded response was for pregnant women going out on an auspicious day (3.7%). Conclusion The current study demonstrated that a majority of the parent's socioeconomic status was upper lower class. Some parents still believe in the myths around the etiology of CLP despite the advances in medicine and technology.

Presentation and Repair of Serial Misdiagnosed Congenital Patellar Dislocation.

Congenital patellar dislocation (CPD) is a rare deformity in children that involves a laterally displaced patella. While potentially identified in early childhood using diagnostic imaging techniques, it is often misdiagnosed at birth, creating pain and mobility issues as the child grows. Dislocation of the patella is permanent and manually irreducible, often manifesting with flexion contracture of the knee, genu valgum, external tibial torsion, and foot deformity. Surgical correction is the treatment of choice in order to prevent future sequelae. We herein present a case of CPD in a four-year-old Asian male who was initially misdiagnosed before undergoing successful surgical repair using the Roux-Goldthwait technique.

An Essential Requirement for Fgf10 in Pinna Extension Sheds Light on Auricle Defects in LADD Syndrome.

The pinna (or auricle) is part of the external ear, acting to capture and funnel sound toward the middle ear. The pinna is defective in a number of craniofacial syndromes, including Lacrimo-auriculo-dento-digital (LADD) syndrome, which is caused by mutations in FGF10 or its receptor FGFR2b. Here we study pinna defects in the Fgf10 knockout mouse. We show that Fgf10 is expressed in both the muscles and forming cartilage of the developing external ear, with loss of signaling leading to a failure in the normal extension of the pinna over the ear canal. Conditional knockout of Fgf10 in the neural crest fails to recapitulate this phenotype, suggesting that the defect is due to loss of Fgf10 from the muscles, or that this source of Fgf10 can compensate for loss in the forming cartilage. The defect in the Fgf10 null mouse is driven by a reduction in proliferation, rather than an increase in cell death, which can be partially phenocopied by inhibiting cell proliferation in explant culture. Overall, we highlight the mechanisms that could lead to the phenotype observed in LADD syndrome patients and potentially explain the formation of similar low-set and cup shaped ears observed in other syndromes.

Study of Lethal Congenital Malformations at a Tertiary-Care Referral Centre in North India.

Lethal congenital malformations (LCMs) are fatal birth defects that are an important cause of fetal/neonatal death. There is a lack of informative data about these malformations in India, a country that shares the maximum burden of neonatal mortality due to congenital birth defects. Therefore, we conducted a retrospective analysis to know the prevalence of LCMs in late pregnancy, to find out associated factor/variables and to evaluate fetal/neonatal outcome of such anomalies; at a tertiary-care referral centre in North India. All deliveries with LCMs after 24 weeks of gestation were included in the study. Data about antepartum history (maternal age, parity, education, socioeconomic status, consanguineous marriage, folic acid intake, any chronic medical disorder, availability of anomaly scan, unplanned pregnancy); intrapartum events (gestational age at delivery, mode of delivery); postpartum events (weight of the baby, gender of the baby); newborn evaluation; and details of hospital stay were recorded from medical record sheet over the duration of one year. We found that anencephaly, severe meningomyelocele, multicystic dysplastic kidneys and non-immune hydrops with major cardiac defects were more prevalent among all LCMs. On the evaluation of the various studied variables, maximum babies with LCMs were born to mothers who were between 20 and 35 years of age, those who were illiterate, belonged to middle/lower socio-economic class, multigravida, and those who had no detailed anomaly scan. We feel that there is an urgent need to formulate a universally accepted definition of LCMs, to identify preventable risk factors and to formulate management strategy for both mother and liveborn baby with LCMs, in order to minimize the hidden burden of these defects in stillbirth/ perinatal/ neonatal mortality statistics.