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Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare entity. It most commonly affects the tubular bones leading to dwarfism and a long trunk with ossification defects. Other presentations are wide hands and feet, dysplastic nails, thin hair, and cardiac malformations. An eight-year-old female patient presented to our tertiary care centre with complaints of short stature, abnormal dentition, and fatigue. The child's parents were first-degree relatives. On radiological imaging, it was revealed that the patient had postaxial polydactyly, short stature, and genu valgum deformity along with mild cardiomegaly. All these features were indicative of Ellis-van Creveld syndrome. EVC is a rare clinical syndrome with a distinctive clinical presentation. It requires comprehensive radiological investigations and the management is best done with a multidisciplinary approach.

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INTRODUCTION: Ellis-van Creveld (EVC) syndrome is an autosomal recessive disorder predominantly characterized by a disproportionate dwarfism, ectodermal dysplasia, postaxial polydactyly, and congenital heart malformations and pulmonary hypoplasia. OBJECTIVE: In this article, we hereby present a case of a 6-year-old Brazilian boy with EVC syndrome who presented a rare oral lesion as well as a remarkable number of classical and uncommon oral and dental features. CASE REPORT: Clinical and radiographic examination revealed multiple enamel hypoplasia, teeth agenesis, conical teeth, lower canine rotation, bilateral posterior crossbite, taurodontism of deciduous and permanent molars and delayed tooth eruption, dental caries, and absent vestibular sulcus. Additionally, a whitish lobulated nodule located in the alveolar ridge in the anterior region of the mandible was noted. Anatomopathological examination was compatible with the diagnosis of peripheral odontogenic fibroma (POF). In a 10-month clinical follow-up, no signs of recurrence were observed. CONCLUSION: In view of the characteristic oral findings of EVC syndrome and the potential for recurrence of POF, the pediatric dentist plays an essential role in clinical follow-up, planning and preventive, and rehabilitative treatment.

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Ellis-Van Creveld syndrome (EVC), also known as mesoectodermal dysplasia, is a rare autosomal recessive disorder with a tetrad of clinical features, comprising dwarfism, polydactyly, ectodermal dysplasia with sparse hair, hypoplastic nails and enamel, hypodontia and conical teeth and congenital heart disease (CHD). We report an 18-year-old girl with short stature and polydactyly, who got admitted to our hospital with shortness of breath on exertion for the last 2 years. On echocardiography, a partial atrioventricular canal (AV canal) defect was diagnosed, which was repaired surgically. The patient had an uneventful perioperative period.

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Ellis-Van Creveld Syndrome (EVC) is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in two genes, EVC1 and EVC2 in the 4p16 chromosome. The exact prevalence of EVC is unknown and is estimated at approximately seven per million. It affects males and females equally. It is a constellation of four findings, including chondrodysplasia, polydactyly, ectodermal dysplasia, and congenital heart defects. Our case was unique as it had left inguinal hernia, short phallus, hyperpigmented scrotum, cryptorchidism, and other defining features of this syndrome. A multidisciplinary team managed this patient with regular follow up. Only six cases have been reported in Pakistan, and only one of them was reported in a neonate. This report highlights the importance of timely and proper multidisciplinary management of such disorders for better outcomes. It will also create awareness among medical professionals and will help them to identify promptly.

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Ellis-van Creveld (EVC) syndrome is a relatively rare chondroectodermal dysplasia considered mainly as a generalised disorder of the maturation of endochondral ossification. Congenital heart disease occurs in approximately half of the patients with EVC syndrome, 60% of which is a common atrium. Common atrium is a rare variety of interatrial communication characterised by absence or virtual absence of the atrial septum. Patients with this syndrome rarely survive to an old age. We report a case of EVC who presented for the first time at 60 years of age, as survival to an advanced age is exceptional in case of EVC.

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Ellis van Creveld syndrome (EVC) is a rare autosomal recessive disorder also called chondroectodermal dysplasia. This study reports on a 40-year-old woman from Iran with a syndromic appearance consisting of a coarse face, conical anterior teeth, dental agenesis and permanent teeth at birth, several small extralabial, nonmidline frenula with a high-arched palate, and a large maxillary labial frenulum. The patient had cyanosis on her lips since childhood and a history of adenoid tonsillectomy surgery. She also had androgenic alopecia, an elongated trunk with excessive lordosis and pectus excavatum, polycystic ovarian syndrome, and a history of two periods in a month. She also had multiple fibrocystic cysts in her breasts, lower extremity deformity, dysplastic genu valgum, and short limb dwarfism; she had undergone left knee surgery four times and had severe osteoporosis in some of her bones and some hyperpigmented patches on the dorsal of the left hand. Her hands and feet were also wide and markedly deformed with hypoplastic fingernails and toenails, and she had bimanual hexadactyly on the ulnar side of the hands. She also had a history of severe hypotension and cyanosis during surgery and suffered from congenital heart failure and had undergone open heart surgery for correcting her atrial heart defect. In this study pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts was reported for first time in this case of EVC syndrome. This case was reported and all articles regarding common, uncommon, rare, and extremely rare presentations of this syndrome were reviewed.

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STUDY DESIGN: This is a level IV retrospective descriptive study at a single institution. OBJECTIVE: The objective of the study was to determine the preoperative signs or symptoms prompting cervicomedullary imaging in Jeune syndrome. SUMMARY OF BACKGROUND DATA: Jeune syndrome is a rare autosomal recessive disorder that results in pulmonary compromise from abnormal development of the thorax. Multiple medical comorbidities complicate timely diagnosis of cervicomedullary stenosis, which neurologically jeopardizes this patient population with regards to improper cervical manipulation. Currently, explicit screening of the cervicomedullary junction is not advocated in national guidelines. METHODS: The User Reporting Workbench and Center for Thoracic Insufficiency Syndrome (CTIS) Safety Registry was queried for patients with Jeune syndrome under the age of 18 with cervicomedullary stenosis with or without suboccipital craniectomy/craniotomy evaluated at the authors' institution from January 1, 2007 to August 21, 2018. The primary outcome was the clinical reason for cervicomedullary screening. Secondary outcomes were: age at time of surgery, preoperative myelopathy (spasticity, urinary retention), hydrocephalus, postoperative deficits (respiratory, motor, swallowing difficulty), and need for cervical fusion. RESULTS: Of 32 patients with Jeune syndrome, four (12.5%) had cervicomedullary stenosis requiring decompression. The average age at surgery was 5.25 months (2-9 mo). Two patients underwent imaging due to desaturation events while the other two patients were diagnosed with cervical stenosis as an incidental finding. No patients exhibited clinical myelopathy. Two patients had baseline preoperative swallowing difficulties. None of the patients postoperatively required cervical fusions, nor did they exhibit respiratory deficits, motor deficits, or worsening swallowing difficulties. CONCLUSION: Jeune patients should be routinely screened for cervicomedullary stenosis and undergo subsequent prophylactic decompression to minimize or eliminate the development of irreversible neurologic compromise. LEVEL OF EVIDENCE: 4.

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PURPOSE: To describe a case of Ellis-van Creveld syndrome with concomitant Usher syndrome. METHODS: A 24-year-old lady with a diagnosis of Ellis-van Creveld syndrome came to our attention in 2015 complaining of nyctalopia. She underwent yearly ophthalmologic examinations, including visual acuity, dilated fundoscopy, optical coherence tomography and colour fundus photography. RESULTS: On the day of her first examination, her visual acuity was 20/20, whereas fundus examination revealed diffuse peripheral retinal atrophy with pigmented bone spicules, waxy pallor of the disc and macular sparing in both eyes, compatible with retinitis pigmentosa. Due to the severe retinitis pigmentosa phenotype for the age and the concomitant neurosensory hearing loss, ancillary electrophysiological and genetic tests were requested. At the end of follow-up, visual function remained stable, with electroretinogram tests confirming the peripheral dysfunction. Interestingly, next generation sequencing test revealed a mutation in USH2A gene, suggestive of an overlapping Usher syndrome. On optical coherence tomography angiography, all plexuses appeared altered, with some degree of impairment also in the choriocapillaris of the spared macula. CONCLUSION: Our report emphasizes the advantage of new genetic tests to investigate atypical presentations of known retinal disorders found in syndromic settings. In addition, we speculate that the underlying ciliopathy might possibly aggravate the phenotype of this case of Usher syndrome.

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INTRODUCTION: Respiratory failure is the leading cause of mortality in individuals with congenital spine and rib deformities. We present a case report of a child with Jeune syndrome surviving respiratory failure using extracorporeal membrane oxygenation (ECMO). We also summarize thoracic insufficiency syndrome cases reported in the Extracorporeal Life Support Organization (ELSO) registry. CASE REPORT: A two-year-old male with a chest circumference less than a third percentile for age was admitted with influenza pneumonia developing a peak oxygenation index of 103.5. The child survived to baseline pulmonary function after nine days of venous-arterial ECMO support. DISCUSSION: The ELSO registry contained 27 individuals with a surrogate diagnosis of thoracic insufficiency (0.05%). There was no significant difference in survival to discharge for thoracic insufficiency patients (52%) compared to a previously healthy population supported with ECMO. CONCLUSION: ECMO is safe and may be effective in supporting individuals with thoracic insufficiency.

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Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000. Our patient had all the major characteristic features consistent with Ellis-van Creveld syndrome including post-axial polydactyly, teeth and nail abnormalities, congenital heart defect and skeletal dysplasia. Until now, only five cases have been reported from this region of the world, none of them diagnosed in neonatal life and having characteristic common atrium.

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Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6-mo-old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy.

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Jeune syndrome (asphyxiating thoracic dystrophy) is a rare autosomal recessive osteochondrodysplasia with a variable degree of severity, clinically characterized by respiratory distress with a narrow chest and limb shortness. The reported incidence is one to five in 500,000 live births. Most patients develop severe respiratory failure during the first 2 years of life, leading to death in 60-80 % of cases. Survivors may suffer from renal, hepatic, or pancreatic complications. Expanding thoracic surgery can be used for severe cases. We describe the case of an 18-month-old boy who developed mild respiratory distress. The patient showed typical radiological features of Jeune syndrome: narrow thorax with short ribs and trident appearance of the pelvis. This case underscores the value of the right interpretation of the chest radiograph of the infant with a respiratory distress syndrome.

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PURPOSE: The objective of this case series was to determine the oral, dental and craniofacial features of patients with EvC syndrome. MATERIAL AND METHODS: Eight patients with EvC syndrome were enrolled. A complete family history, pedigree analysis, detailed medical history were collected. Findings of clinical examination, including craniofacial and orodental manifestations, and radiological investigations were thoroughly studied. RESULTS: All eight patients had characteristic face, hypertrophic frenulum, conical and peg-shaped teeth, hypodontia of deciduous and/or permanent teeth and also skeletal dysplasia, small chest, short stature and hypoplastic nails. Additionally dysmorphic filtrum, serrated appearance of gingiva, diastema, enamel hypoplasia, microdontia, taurodontism, single rooted permanent molar, delayed eruption and high caries rate were observed with varying degrees. Cephalometric evaluation revealed skeletal Class III growth pattern in four subjects and Class II growth pattern in one subject. CONCLUSION: Evaluation of craniofacial and orodental anomalies of EvC syndrome is required for accurate differential diagnosis from other congenital syndromes.

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Patients suffering from Ellis-Van-Creveld syndrome are a challenge for dental management. Aesthetics are a major concern with limited manual dexterity, making choice of treatment critical. A 38 year old female diagnosed with Ellis-Van-Creveld syndrome presented with stained teeth and un-aesthetic smile and related that to her low self-esteem and depression. Intra-oral examination revealed mal-aligned megadont central incisors in the maxillary arch, fused mandibular canines with laterals and missing central incisors with space discrepancy and pronounced reverse over jet and overbite. Treatment involved non-surgical periodontal management, fabrication of veneers and dentine bonded crowns for maxillary anteriors and fixed-fixed resin retained bridge for mandibular arch.

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Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by hypoplastic nails, polydactyly, and achondroplasia. Patients usually exhibit normal cognitive function and no remarkable developmental delay. We herein present an unusual case of EVC syndrome. A Japanese 2-year-old boy was born at term, but immediately developed severe respiratory failure due to thorax deformity, postaxial polydactyly and nail hypoplasia. We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome. Interestingly, he also had severe developmental delay, and suddenly developed excessive abdominal distension at the age of 2. On surgery, extensive necrotic bowel with chronic intestinal pseudo-obstruction was noted. This is, to our knowledge, a most severe phenotype of EVC syndrome, illustrating that the specific pattern of EVC2 compound heterozygous mutations may cause severe developmental delay and intestinal malfunction.

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Ellis-Van Creveld is a rare syndrome with characteristic dental and orofacial findings. Dental management of patients with Ellis-Van Creveld syndrome can be complicated by the associated skeletal and cardiac abnormalities. Here, we present the dental and orofacial findings in a patient with Ellis-Van Creveld syndrome, describe a new oral finding, and discuss the dental management considerations.

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