Abstract Objectives: The purpose of this report is to document a case of cervical spinal stenosis and myelomalacia in a patient with Klippel-Feil (KF) syndrome with a large C4/5 disc bulge presenting with cervical radiculopathy. Subject: A 39-year-old man was referred to a private chiropractic practice for a consultation. He ...

Cervical spondylosis is a broad term which describes the age related chronic disc degeneration, which can also affect the cervical vertebrae, the facet and other joints and their associated soft tissue supports. Evidence of spondylitic change is frequently found in many asymptomatic adults. Radiculopathy is a result of intervertebral foramina ...

ABSTRACT:: Study Design: Focused review of the literature.Objectives: Assist spine specialists in diagnosis and treatment of cervical spine anomalies found in selected genetic syndromes.Summary of Background Data: Cervical spine instability and/or stenosis are potentially debilitating problems in many genetic syndromes. These problems can be overlooked among the other systemic issues ...

Facial dysmorphism associated with distinctive spine abnormalities has been encountered in a girl and her mother. A three-dimensional reformatted spinal computed tomography scan showed a combination of distinctive abnormalities such as failure of anterior formation of the vertebral bodies, malsegmentation, and Forestier disease. Mutations were not found in the GDF6 ...

BACKGROUND: Eagle's syndrome is characterized by the symptoms of recurrent throat pain, pharyngeal foreign body sensation, dysphagia, referred otalgia, and neck pain. The treatment for Eagle´s syndrome can be pharmacologically, surgically, or both. The surgical management consists of two major procedures: the transoral approach or the extraoral-cervical approach. CASE REPORT: ...

INTRODUCTION: Brown-Sequard syndrome is an incomplete spinal cord lesion characterized by ipsilateral loss of motor function and contralateral loss of pain and temperature sensitivity, reflecting a hemi-compression or hemi-section of the spinal cord. Cervical disc herniation is an exceptional cause of this syndrome. MATERIAL AND METHODS: We report a case ...

Background: Steal syndrome is a significant complication of arteriovenous fistulae (AVF). We wanted to assess an alternative technique to reduce the incidence of steal syndrome and add an extra option for vascular access for long-term hemodialysis patients Methods: All patients who underwent proximal radial or ulnar artery AVF between 2003 ...

Thoracic Outlet Syndrome (TOS) describes a variety of symptoms caused by the compression of the neurovascular structures in the cervicoaxillary region as they leave the thorax toward the upper limbs. Causes of TOS are vascular and neurogenic, with neurogenic symptoms being the most common presentation (95% of patients). Symptoms related ...

Pectus carinatum or keel chest is a spectrum of progressive inborn anomalies of the anterior chest wall, named after the keel (carina) of ancient Roman ships. It defines a wide spectrum of inborn protrusion anomalies of the sternum and/or the adjacent costal cartilages. Pectus carinatum is often associated with various ...

Polysplenia syndrome (PS) is rarely encountered in elderly. It is characterized by multiple spleens associated with various cardiac and gastrointestinal abnormalities including partial or complete agenesis of dorsal pancreas. Situs inversus totalis (SIT) is a rare congenital anomaly with mirror image of viscera combined with dextrocardia. Occurrence of SIT and ...

Although limb anomalies are a common clinical problem, they are rarely studied. The spectrum of limb anomalies ranges from very mild disorders such as syndactyly to very severe forms such as absent limb (amelia). Tetra-amelia is a rare anomaly with complete or partial deficiency of all four limbs. It may ...

Several cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY with multiple anomalies have been reported. I report on an additional case of a male fetus with a mosaic male karyotype mos 46,X,der(Y)t(Y;1)(q12;q21)[31]/46,XY[21] and multiple anomalies that included "teardrop"-shaped head with a triangular face, a short-nasal bridge with upturned nose, microretrognathia, microtia, kyphoscoliosis, oligodactyly, syndactyly, ...

SOX2 anophthalmia syndrome characteristically presents as anophthalmia or microphthalmia, with various extraocular symptoms, such as hypogonadotropic hypogonadism, brain anomaly, and esophageal abnormalities. In this report, we describe a patient with SOX2 anophthalmia syndrome complicated with a dental anomaly, multiple supernumerary impacted teeth, and persistence of deciduous teeth. Multiple supernumerary teeth ...

Lumbocostovertebral syndrome is a rare clinical association syndrome rarely accompanied by associated VACTERL anomalies. Only one similar case has been reported previously. We describe the second case, where a male neonate born at 38 weeks of gestation had an unusually high number of congenital anomalies including thoracic hemivertebrae with kyphoscoliosis, ...

The occurrence of portal vascular anomalies in Down syndrome has been sporadically reported in the literature. These rare disorders have a wide spectrum of anatomical and clinical presentations. The aim of this communication was to describe the clinical course, imaging features, and management approaches in patients with this association. We ...

PHACES syndrome is a neurocutaneous disorder characterized by posterior fossa brain malformations, hemangiomas, cardiac anomalies and coarctation of aorta, eye anomalies ± sternal clefts. All reported cases are sporadic and notably common in females. The underlying cause is unknown. Here is described, one of the twin baby with characteristic features ...

Split notochord syndrome is a rare congenital malformation that results in spinal anomalies associated with anomalies of the gastrointestinal tract and central nervous system. This report presents an infrequently described variant of this syndrome. A 9-month-old female presented with a dorsal midline mass since birth which was partially covered by ...

Hypoglossia is a rare congenital anomaly and is frequently associated with limb anomalies. In 1971, Hall employed the term hypoglossia-hypodactylia syndrome for the classification of these oromandibular-limb hypogenesis syndromes. The syndrome is characterized by hypoglossia, micrognathia mandible and variable degrees of limb abnormalities, frequent gingival abnormalities, and an absence of ...

An infant with Down's syndrome was noted to have hypoxemia and tachypnea at birth. The clinical examination, electrocardiogram (ECG) and the chest X-ray findings suggested a specific diagnosis that is not usually associated with Down's syndrome. Despite the extremely rare association of Ebstein's anomaly with Down's syndrome, this diagnosis was ...

We present a patient with the combination of hypoplastic left heart syndrome (HLHS), large omphalocele, and hypoplastic left bronchus who underwent a modified Norwood procedure and was successfully discharged home. The child required tracheostomy with home ventilation and we elected to delay the primary repair of the omphalocele. To our ...

The authors report a new case of Beare-Stevenson syndrome (BSS) characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, ear defects, a prominent umbilical stump, and midface hypoplasia. The patient had dental findings of natal teeth and hypodontia of the primary and permanent teeth. This is the second patient with BSS syndrome ...

The manuscript highlights some historic milestones of the universal trans-radial approach (TRA) and describes some characteristics that "radialists" share (at least in the author's opinion). The author argues against common misconceptions about the TRA, like the use of more iodine contrast, more X-ray exposition, a lower rate of successful angioplasty. ...

Ebstein's anomaly (EA) is the most common cause of congenital tricuspid regurgitation. The associated anomalies commonly seen are atrial septal defect or patent foramen ovale and accessory conduction pathways. Its association with coexisting mitral stenosis (MS) has uncommonly been described. The hemodynamic consequences and anesthetic implications, of a combination of ...

Peters plus syndrome is a rare condition, with ocular and systemic malformations. We describe a case of unilateral Peters anomaly with previously unreported systemic findings associated with this syndrome. In addition, autopsy findings suggested that severe developmental angle anomalies may be the cause of glaucoma in some of these patients.

The association of posterior fossa malformation, facial cavernous hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects and eye abnormalities (PHACE syndrome) represents a rare congenital anomaly with a broad spectrum of clinical manifestations and female predominance. We herein report on a girl who manifested the typical clinical features of PHACE ...

Strømme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly and developmental delay. To date, this condition was described in a couple of sibs and 7 additional sporadic patients. We report on a 11-month-old female, who requested surgical correction for jejunal atresia ...

We report a neonate with antenatal imaging features suggestive of CLOVES syndrome. Postnatal clinical and imaging findings confirmed the diagnosis, with the constellation of truncal overgrowth, cutaneous capillary malformation, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in this particular phenotype help differentiate it from other overgrowth ...

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal organs, including the central nervous, cardiopulmonary, gastrourointestinal, and genitourinary systems. Generally, the more severe these interrelated anomalies are, the poorer ...

antenatal variant of Bartter syndrome is characterized by a history of polyhydramnios, premature birth, metabolic alkalosis, hypokalemia, polyuria and renal salt wasting. In this report we present a premature female baby with antenatal Barter syndrome who had three episodes of urinary tract infection (UTI), without evidence for congenital anomaly of ...

OBJECTIVES: The number of publications on the oral features in Apert syndrome is limited. The present study investigated dental tissues in Apert syndrome histologically, to determine the nature and extent of anomalies, to provide some insight into the nature of the condition, and to explain how observed anomalies may affect ...

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele. We report a case of a 4-month-old male baby, who was referred to our institute with the complaints of decreased vision. This is the first report from Northeastern part of India as ...

Congenital causes of limited mouth opening involving fusion of maxilla and mandible (syngnathia) are rare anomalies that often present as part of syndromes such as Van der Woude and popliteal pterygium syndrome. Surgical management involves division of the bony fusion or breakdown of the adhesions in the first few days ...

It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients in countries where thymic transplantation ...

Several types of abnormalities of the ribs have been reported. Many of these anomalies usually result in the correct diagnosis thanks to the characteristic radiological appearances. But some of the anomalies are rare and it is important to recognize and get accustomed to differing appearances of these osseous abnormalities in ...

Goldenhar syndrome is a rare, presumably inherited condition that has a multifactorial etiopathology that results in disturbances of blastogenesis. The syndrome is characterized by the presence of dermal epibulbar tumors, periauricular appendices, malformed ears, and vertebral anomalies, with occasional occurrence of cardiac, visceral, or central nervous system anomalies. This report ...

Focal dermal hypoplasia, also known popularly as Goltz syndrome, is a multisystem disorder characterized by linear or reticulate atrophic macules with fat herniation that is associated with various cutaneous and extracutaneous anomalies. We present a case of a patient with Goltz syndrome who exhibits a classical presentation, associated with exopthalmos ...

Human tails and pseudotails are rare sacrococcygeal lesions that are associated with a wide variety of anomalies and syndromes. Anorectal malformations are also relatively uncommon congenital defects that often occur in conjunction with syndromes or other congenital abnormalities. The anomalies associated with both disorders determine the timing and approach to ...

In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial lung agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of lung agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We ...

OBJECTIVE: Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare ...

The authors describe a 5-year-old boy who had three congenital anomalies (clinical anophthalmos, meningocele, and glial heterotopia) in the orbit. These were associated with multiple neurological anomalies.

Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of ...

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. ...

Jarcho-Levin syndrome (JLS) is a congenital disorder characterized by a variety of vertebral and costal anomalies that result in thoracic deformity. Hitherto, a plethora of associated anomalies have been described in several reports. In this report, the authors describe a case of JLS who has Wilms tumor and bilateral cystic ...

Branchio-oculo-facial syndrome (BOFS) is an autosomal-dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P). We report on one family with three affected, and two sporadic cases that have been found to carry missense mutations in the newly reported ...

PAGOD syndrome is a rare condition characterized by multiple congenital anomalies including pulmonary artery and lung hypoplasia, agonadism, diaphragmatic abnormalities, cardiac defects, omphalocele, and various genital anomalies. The etiology of this condition is unknown but the spectrum of birth defects is similar to the developmental anomalies observed in vitamin A ...

This report describes a 4 year-old girl with history of hypotonia, developmental delay, and failure to thrive in infancy. She has cognitive impairment and multiple congenital anomalies, including Duane anomaly, Mondini malformation with associated deafness, external ear malformations, and atrial and ventricular septal defects. Array comparative genomic hybridization demonstrated a ...

The authors report on a patient which presented at birth facial anomalies similar to those of facial alcoholic syndrome (i.e. high forehead, wide nasal bridge, upturned nose, flat philtrum), low set ears, short neck. Successive-ly, also an arachnoid right temporo-polar cyst with hypoplasic right temporal lobe was diagnosed. They think ...

BACKGROUND: Goltz syndrome, or focal dermal hypoplasia, is a rare congenital mesoectodermal syndrome. It is characterized primarily by extensive cutaneous and musculoskeletal defects. CASE: We report on a 17-year-old menarchal girl diagnosed with a severe form of Goltz syndrome who was referred to the Gynecology Division at the Children's Hospital ...

SUMMARY: Peters' anomaly occurs as an isolated ocular abnormality, in association with other systemic abnormality or one component of a number of well-defined syndromes. We review our experience of anaesthetic management and systemic association of peters' anomaly. To the best of our knowledge there are no reports in the literature ...

Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is ...