congenital vertebral defects

Poland syndrome is indeed a rare congenital malformation that can present with various degrees of thoracic and homolateral upper limb anomalies. The classic features of Poland syndrome include agenesis or hypoplasia of the sternocostal head of the pectoralis major muscle, hypoplasia of the nipple, absence of subcutaneous fat, multiple rib abnormalities, and sometimes Sprengel deformity (elevation of the scapula). Additionally, ipsilateral symbrachydactyly (combination of "short fingers" with cutaneous syndactyly [fused fingers]) may also be observed...

BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, low posterior hairline, and limited range of movement. However, Klippel-Feil syndrome manifests with a vast spectrum of phenotypes, ranging from no symptoms to complete triad, with or without other associated malformations. Most commonly, CCF results from sporadic mutations, even though autosomal recessive, autosomal dominant, or even X-linked inheritance can be detected...

Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this investigation was to assess the frequency and the types of associated anomalies among cases with an/microphthalmia in a geographically well defined population of northeastern France of 387,067 consecutive pregnancies from 1979 to 2007. Of the 98 infants with an/microphthalmia born during this period (prevalence at birth of 2...

Jarcho-Levin syndrome (JLS) is a congenital dysostosis characterized by multiple vertebral and intrinsic rib abnormalities. JLS and neural tube abnormalities rarely occur together. There have been few cases of JLS associated with a split spinal cord malformation (diastematomyelia). A dorsal dermal sinus is a tract from the skin that may end in soft tissue, epidural space, or most commonly intradural. We report the case of a 5-day-old male neonate with JLS who presented with respiratory distress immediately after birth...

UNLABELLED: Neural tube defects (NTDs) are among the most devastating and common congenital anomalies worldwide, and the ability to model these conditions in vivo is essential for identifying causative genetic and environmental factors. Although zebrafish are ideal for rapid candidate testing, their neural tubes develop primarily via a solid neural keel rather that the fold-and-fuse method employed by mammals, raising questions about their suitability as an NTD model. Here, we demonstrate that despite outward differences, zebrafish anterior neurulation closely resembles that of mammals...

Myelomeningocele (MMC) is a congenital defect of the spine characterized by meningeal and spinal cord protrusion through the open vertebral arches. This defect causes progressive prenatal damage of the spinal cord, leading to lifelong handicap. Although midtrimester surgical repair may reduce part of the handicap, an earlier and less invasive approach would further improve the prognosis, possibly minimizing maternal and fetal risks. Several studies have proposed an alternative approach to surgical repair, by covering the defect with a patch and protect the exposed neural tissue...

The Goldenhar syndrome also known as oculo-auriculo-vertebral dysplasia is one of the rare congenital defects that usually involves the impaired development of structures derived from first and second branchial arches such as ears, eyes, mandible, palate and various other structures of the face along with spinal abnormalities. The severity of Goldenhar syndrome anomalies can range from minor to severe, and patients with modest facial asymmetry to those with a highly evident facial abnormality. The most typical characteristics of this condition are dental ailments and impaired development of the mandible, maxilla, zygomatic, orbital, lips, tongue, and palate...

BACKGROUND: There is limited knowledge regarding the impact of perioperative critical care on frequency of neurological imaging findings following esophageal atresia (EA) repair. METHODS: This is a retrospective study of infants (n = 70) following EA repair at a single institution (2009-2020). Sex, gestational age at birth, type of surgical repair, underlying disease severity, and frequency of neurologic imaging findings were obtained. We quantified the length of postoperative pain/sedation treatment and anesthesia exposure in the first year of life...

Abnormal expression of the transcriptional regulator and hedgehog (Hh) signaling pathway effector Gli3 is known to trigger congenital disease, most frequently affecting the central nervous system (CNS) and the limbs. Accurate delineation of the genomic cis-regulatory landscape controlling Gli3 transcription during embryonic development is critical for the interpretation of non-coding variants associated with congenital defects. Here we employed a comparative genomic analysis on fish species with a slow rate of molecular evolution to identify seven previously unknown conserved noncoding elements (CNEs) in Gli3 intronic intervals (CNE15-21)...

INTRODUCTION AND IMPORTANCE: Hemifacial microsomia (HFM) is a complex congenital facial anomaly characterized by a wide spectrum of clinical features, which encompass the facial skeleton and other organ systems. Currently, there is no evidence to suggest an association between Hemifacial Microsomia and vascular malformations, whether of the vertebral or any other kind. CASE PRESENTATION: Reporting a case of a 12-year-old male diagnosed with Hemifacial Microsomia (HFM) and left Microtia...

BACKGROUND: Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs. CASE: A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed...

STUDY DESIGN: A mouse study of the Slc7a5 gene using conditional knockout to assess the effects of its inactivation on spinal deformity. OBJECTIVES: This study aimed to investigate whether the mice with scoliosis (induced by chondrocyte-specific inactivation of L-type amino acid transporter 1 [LAT1]) show a developmental process similar to that of pediatric scoliosis and to examine the relationship between reduced bone mineral density (BMD) and scoliosis. Furthermore, we aimed to obtain insights into elucidating the etiology and pathophysiology of scoliosis...

Congenital vertebral malformations (CVMs) and neural tube defects (NTDs) are common birth defects affecting the spine and nervous system, respectively, due to defects in somitogenesis and neurulation. Somitogenesis and neurulation rely on factors secreted from neighbouring tissues and the integrity of the axial structure. Crucial signalling pathways like Wnt, Notch and planar cell polarity regulate somitogenesis and neurulation with significant crosstalk. While previous studies suggest an association between CVMs and NTDs, the exact mechanism underlying this relationship remains unclear...

BACKGROUND: Microtia can occur as a standalone condition or as part of a genetic syndrome. We report the first case of microtia presenting in a patient with dextrocardia, situs inversus totalis, butterfly vertebra, and hemivertebra, and we present technical recommendations for optimizing anaesthetic and surgical harmony in this extraordinary case.Patients with situs inversus dextrocardia should be checked for signs of Kartagener syndrome. Dextrocardia requires mirroring the placement of electrocardiogram (ECG) leads and the use of shocking paddles for cardiopulmonary resuscitation...

BACKGROUND: Open spina bifida is an uncommon malformation in animals, and there is a lack of imaging, clinical, and pathological characterisation of this condition in dogs. OBJECTIVE: Open spina bifida is rarely observed in animals due to high levels of perinatal mortality and frequent euthanasia. To the best of our knowledge, we present the first case of spina bifida in a dog was diagnosed in-utero and then followed post-partum. METHODS: A 3-year-old Poodle was presented with twin pregnancy...

How two-chambered hearts in basal vertebrates have evolved from single-chamber hearts found in ancestral chordates remains unclear. Here, we show that the teleost sinus venosus (SV) is a chamber-like vessel comprised of an outer layer of smooth muscle cells. We find that in adult zebrafish nr2f1a mutants, which lack atria, the SV comes to physically resemble the thicker bulbus arteriosus (BA) at the arterial pole of the heart through an adaptive, hypertensive response involving smooth muscle proliferation due to aberrant hemodynamic flow...

BACKGROUND: Syngnathia is an ultrarare craniofacial malformation characterised by an inability to open the mouth due to congenital fusion of the upper and lower jaws. The genetic causes of isolated bony syngnathia are unknown. METHODS: We used whole exome and Sanger sequencing and microsatellite analysis in six patients (from four families) presenting with syngnathia. We used CRISPR/Cas9 genome editing to generate vgll2a and vgll4l germline mutant zebrafish, and performed craniofacial cartilage analysis in homozygous mutants...

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.e., iHLHS) in 70% of families, the vast majority of which are simplex. Despite intense investigation, the genetic basis of iHLHS remains largely unknown. We performed exome sequencing on 331 families with iHLHS aggregated from four independent cohorts...

In vertebrates, the entire central nervous system is derived from the neural tube, which is formed through a conserved early developmental morphogenetic process called neurulation. Although the perturbations in neurulation caused by genetic or environmental factors lead to neural tube defects (NTDs), the most common congenital malformation and the precise molecular pathological cascades mediating NTDs are not well understood. Recently, we have developed human spinal cord organoids (hSCOs) that recapitulate some aspects of human neurulation and observed that valproic acid (VPA) could cause neurulation defects in an organoid model...

OBJECTIVE: The pathophysiology of idiopathic spinal cord herniation remains unknown. However, several different factors have been postulated, such as congenital causes (ventral dura mater duplication, preexisting pseudomeningocele, or other congenital dural defects), inflammation, remote spinal trauma, or thoracic disc herniation. Herein, the diagnosis and surgical treatment of a patient with spinal cord herniation caused by an intraspinal bone spur is presented along with a relevant literature review...