Esquirol-Séguin-Down Syndrome Associated with Atrial Septal Defect plus Tricuspid Regurgitation

Background: Esquirol-Séguin-Down syndrome (Trisomy 21) was first described by Jean-Etienne Dominique Esquirol in 1838 and later by Edouard Séguin in 1846. Thereafter, in 1862, John Langdon Down, a British physician emphasized that the syndrome is a distinct form of mental retardation. Congenital cardiac defects are observed in more than one third of the patients with Esquirol-Séguin-Down syndrome, and in approximately 80% these cardiac defects are atrioventricular septal defect or ventricular septal defect with the former being more common. The association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation has been rarely reported. The aim of this paper is to report the rare association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation. Patients and methods: Two and half years old boy with Esquirol-Séguin-Down syndrome, developmental delay and abnormal echocardiography was studied, and the recent relevant literatures were reviewed. Results: Dysmorphic facial features included hypertelorism, oblique palpebral fissures, epicanthic folds, depressed nasal bridge and low set ears. Echocardiography showed atrial septal defect with tricuspid regurgitation. Conclusion: This paper reports the first case of Esquirol-Séguin-Down syndrome in Iraq associated with atrial septal defect plus tricuspid regurgitation.

Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay. Until now only 20 mutated individuals have been reported worldwide. Here, we describe two siblings from consanguineous healthy parents in which a novel homozygous frameshift variant c.1586dup p(Thr530Hisfs*) in the XYLT2 gene was detected by exome sequencing (ES). The first patient (9 years) presented short stature with skeletal defects, long face, hearing loss and cataract. The second patient, evaluated at a few days of life, showed macrosomia, diffuse hypertrichosis on the back, overabundant skin in the retronucal area, flattened facial profile with drooping cheeks, elongated eyelid rims, wide and flattened nasal bridge and turned down corners of the mouth. During the prenatal period, high nuchal translucency and intestinal hyperechogenicity were observed at ultrasound. In conclusion, these two siblings with a novel pathogenic variant in XYLT2 further expand the clinical and mutational spectrum of SOS.

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

Background Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. Case presentation A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. Whole exome sequencing (WES) revealed a heterozygous nonsense mutation in exon 8 of the KAT6A gene (c.1312C>T, p.[Arg438*]) at 2 months of age. After a diagnosis of ARTHS, an expressive language delay was observed during serial assessments of developmental milestones. Conclusions In this study, we describe a case with a novel KAT6A variant first identified in Korea. This case broadens the scope of clinical features of ARTHS and emphasizes that WES is necessary for early diagnosis in patients with dysmorphic facial appearances, developmental delay, and other congenital abnormalities.

Maxillary necrosis by Mucormycosis: A Case Report

A 50-year-old woman with type 2 diabetes was referred to the hospital with a 4-week history of a facial redness that proceeded to significant midface ulceration and bilateral vision loss. Her nasal bridge was completely collapsed, she had naso-palatal ulceration with black eschars on the mucosa, and her fasting blood sugar was significantly increased. Her blood sugar was controlled with soluble insulin through sliding scale, and surgical debridement was performed, which revealed fungal hyphae on histo-pathological assessment. Ketoconazole, an antifungal drug, was commenced immediately. She progressed slowly but steadily after that and her wound became clear with fresh granulation tissue. Keywords: Mucormycosis, Uncontrolled diabetic mellitus

Morphological Analysis of Nose in Patients of Tessier No. 0 Cleft With a Bifid Nose in China

Objective: Facial cleft involves complex malformations. No study assessed the facial deformity of Tessier No. 0 cleft with a bifid nose. Thus, we used anthropometric measurements to access the nose in patients.Methods: A total of 24 bifid nose deformities underwent surgery at our institution between 2010 and 2019. Standardized photographs were taken preoperatively and postoperatively. Landmarks were identified on these images; measurements for nasal analysis were performed and compared with the established Chinese norms. Surgical method differences were also analyzed.Results: The median follow-up time was 2.51 years. Postoperatively, there is a significant difference in comparison with preoperative in the nasal index, medial canthus and nose width index, nasolabial angle, nasofacial angle, ala length and nasal bridge length index, nasal tip protrusion and nasal width index, and nasal width and ala length index. Furthermore, the medial canthus and nose width index, and nasal width and ala length index were significantly larger in ordinary people, while ala length and nasal bridge length index and nasal tip protrusion and nasal width index were smaller. After surgery, most angles and index were standard except the nasolabial angle in the females, and ala length and nasal bridge length index in the males. Moreover, as for the group of costal cartilage transplantation, most index and angles have improved after surgery including nasolabial angle, nasofacial angle, ala length and nasal bridge length index, nasal tip protrusion and nasal width index, and nasal width and ala length index. However, only nasal tip protrusion and nasal width index, columella length and nasal tip protrusion index, and nasal width and ala length index in the silicone prosthesis group implantation has significance. Costal cartilage transplantation can also better improve ala length and nasal bridge length index than the silicone prosthesis implantation.Conclusion: Most defects can be repaired with surgery, but the outcome has a lack of evaluation. Thus, anthropometric assessment can serve as a material for nasal and reconstructive surgery.

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

Genetic variants in the gene Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals from 22 families, all with molecularly confirmed diagnoses of KBG syndrome. Twenty-one individuals have de novo variants, three have inherited variants, and one is inherited from a mother exhibiting low-level mosaicism. Of these variants, 20 are truncating (frameshift or nonsense), and five are missense. We created a novel protocol for collection and reporting of data, including prospectively interviewing these individuals and their families throughout eight countries via videoconferencing by a single clinician. Participants' medical records, including imaging, were reviewed, and data was uploaded to the Human Disease Gene website using Human Phenotype Ontology (HPO) terms. Photos of the participants were submitted to GestaltMatcher and Face2Gene (FDNA Inc, USA) for facial analysis, and we found similar facial phenotypes among the participants. Within our cohort, common traits included short stature, macrodontia, anteverted nares, wide nasal bridge, wide nasal base, thick eyebrows, synophrys and hypertelorism. Seventy-two percent of participants had gastrointestinal complaints and 80% had hearing loss. Three participants were started on growth hormone with positive results. Behavioral issues and global developmental delays were found in most participants. Neurologic abnormalities including seizures and/or EEG abnormalities were also very common (44%), suggesting that early detection and seizure prophylaxis could be an important point of intervention. Twenty-four percent were diagnosed with attention deficit hyperactivity disorder (ADHD) and 28% were diagnosed with autism spectrum disorder (ASD). Additionally, we have identified minimally reported symptoms, including recurrent sinus infections (16%) and previously unreported migraines (20%). Based on the videoconferencing and these data, we provide a set of recommendations regarding diagnostic and treatment approaches for KBG syndrome.

Rhizomelic limb shortness and abnormal facies: short stature syndrome sharing some manifestations with robinow syndrome

In children, short stature and disproportionate skeletal growth are associated with many syndromes and these syndromes have characteristic radiological changes which help in their diagnosis. However, many of them have no well-defined diagnostic criteria, and thus overlap between apparently distinct syndromes is common. Here, we report a child with characteristic features seen distinct from any other dwarfing syndrome known to us with some of the features similar to Robinow syndrome. Newborn had a broad and prominent forehead, mid-face hypoplasia, hypertelorism, flat nasal bridge, upturned nose, elongated philtrum, protruding tongue, single crease in the left hand, widely spaced nipple, brachydactyly in lower limbs, and disproportionately short rhizomelic upper and lower limbs. Based on these features, a diagnosis of Robinow syndrome was made. The case was the first of his kind admitted to our institute. The diagnosis was made clinically after follow-up.

Nasal foreign bodies: our experience

Background: The experience of a mother of a child with a foreign body stuck in its nasal cavity can be quite panicky and horrifying. The nasal foreign bodies are one of the commonest emergencies in the department of otorhinolaryngology. The common foreign body objects that are removed from the nasal cavity includes beads, pencil butts, peas or other grains, seeds, sponge, stones, paper bits, erasers, metallic objects, crayons, batteries.Methods: An observational prospective study was performed at the department of otorhinolaryngology, government medical college, Kathua, Jammu and Kashmir. In this study we examined 120 cases of foreign body nose that had presented to us from March 2019 up to March 2020. Once detected a written consent was obtained from the patient’s attendants after duly explaining the involved risks to the child. Thereafter the foreign bodies were removed using appropriate instruments. Microsoft Excel tool were used to analyze and interpretate the data.Results: Amongst the 120 patients, there were 23 adults and 97 children under 10 years. Study included 72 males and 48 females. The 86 patients had a clear history of foreign body insertion. The 12 patients were brought to our OPD with history of a long standing unilateral nasal discharge. The 12 patients had presented with history of epistaxis. Eight patients had presented with headache and recurrent episodes of rhinorrhea. Two cases presented with symptoms of pain over the nasal bridge and swelling. In our study 86% of the patients were brought with a history of foreign body insertion and only 14% a foreign body was detected when the child had presented to the outpatient department with nasal complaints. Amongst the patients 88 of them (74%) had presented with foreign bodies in their right nostril.Conclusions: Any history of insertion of a foreign body inside the nose should be thoroughly investigated. Appropriate clinical examination and diagnostic nasal endoscopy (wherever indicated) should be done. Appropriate instrument should be selected and used for foreign body removal.

Severe deforming dermatitis in a kitten caused by Caryospora bigenetica

Background Caryospora bigenetica is an intracellular protozoan parasite, which in its primary hosts, typically snakes, is found it the intestine. Extraintestinal multiplication with the development of tissue cysts takes place in secondary hosts, which are normally prey for snakes. Natural infection in domestic animals has been reported only in dogs; this is the first report of C. bigenetica infection in a cat. Case presentation A stray kitten developed nodular dermatitis after being adopted by a shelter. Firm swelling, nodules, and crusts were present mainly on the nasal bridge, eyelids, and pinnae. Histopathology and cytology revealed severe pyogranulomatous inflammation with abundant intracellular organisms suggestive of apicomplexan protozoa. Treatment with clindamycin 13 mg/kg twice daily was initiated, but the cat was euthanized because of the worsening condition. Transmission electron microscopy confirmed parasite’s apicomplexan origin postmortem, and the causative agent was identified as C. bigenetica by polymerase chain reaction and DNA sequencing. Conclusions We present the first case of a naturally occurring infection with C. bigenetica in a cat. Although the definitive etiological diagnosis relied on molecular identification, the abundance of unsporulated oocysts and caryocysts and the parasite's effective reproduction within macrophages and in several other cell types might have enabled differentiation from other protozoal infections and allowed a presumptive diagnosis through cytology and histopathology.