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Ellis Van Creveld Syndrome: A Case Study

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INTRODUCTION Ellis–van Creveld syndrome (EVCS) also known as chondro-ectodermal dysplasia or meso-ectodermal dysplasia was initially coined by Ellis of Edinburgh and Simon van Creveld of Amsterdam in 1940. (1) It is a hereditary disorder caused by alterations in an original gene on chromosome 4p16.(2) It determines autosomal recessive inheritance and there is parentral consanguinity in 30% of the cases.(3) The occurrence of this disease in general population is moderately low. This disease is predominant in the Amish population of Pennsylvania of USA. (4) EVC syndrome is one of the rare conditions with a birth prevalence of 7/10, 00, 000. (5) About 150 cases are stated in literature. Around less than 25 cases have been reported in India. (6) …show more content…

The abnormalities include defects of the mitral and tricuspid valves, patent ductus arteriosus, ventricular septal defect, atrial septal defect and hypoplastic left heart syndrome which are the principal causes of decreased life-expectancy in these patients.(6) The presented case also demonstrated characteristic findings of EVCS which included polydactyly of the hands and feet and history of congenital cardiac defect which was operated two years ago. EVCS is a condition with a diverse oral manifestations which include hyperplastic frenula, absence of mucobuccal fold , serrations of the alveolar ridge, partial cleft lip, neonatal teeth, peg shaped laterals , partial anodontia, conical and microdontic teeth and delayed eruption of teeth.(10) In the present case, we reported similar dental manifestations like oligodontia, generalized microdontia, serrations of alveolar ridge, conical shaped teeth with abnormal occlusal anatomy, multiple labial freni, delayed eruption of teeth which was suggestive of

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Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

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History: Hank Harum ( Case # 7755) was first seen by Firgrove Veterinary Hospital on October 24, 2012. He was a stray feline brought in for an annual exam and vaccines by his owners. He weighed roughly 8 pounds. The doctor suggested to do an FIV test on Hank since he was a stray neighborhood feline for many years.

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Here is a case presented with distension of abdomen with ascites, bilateral pedal oedema, macrocephaly, left half facial edema, left half hypertrophied tongue, dental anamolies. acanthosis nigricans, acrochordons and syndactyly consistent with a diagnosis of Hennekam syndrome. The diagnosis of Hennekam is

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The cause of this disease is unknown. This disease can happen to anyone both men and women any from the ages as early as 10-30 years of age. There are many speculations on what could cause this skin disease such as, some researchers think it is an autoimmune disease, if you have an autoimmune disease you may have more of a chance of getting vitiligo. Autoimmune diseases

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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Now since we know what CBD compound is let’s now find out how and why it came about in the last few years to the spotlight. Matt and Paige Figi was a married couple that already had a 2 year old son when they decided to have another child. They got the surprise of their lives when an ultrasound revealed not one but two babies. Charlotte and Chase were born October 18, 2006."They were born at 40 weeks. ... Charlotte weighed 7 pounds, 12 ounces.

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The movie, Wonder, illustrates what life is like for Auggie, a young boy born with major facial deformation, who is starting 5th grade after being homeschooled his entire life. This movie is based off of the book written by R.J. Palacio. The story brings light to Treacher Collins Syndrome, the disease Auggie was born with; his story shares what many others born with the disease face. “Treacher Collins is an extremely rare congenital cranial facial disorder. It affects just one in 50,000 people” (Wonder Boy).

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After careful consideration of the information that has been presented for Ellen Waters, I have decided that she meets the criteria for (F34.1) Persistent Depressive Disorder Severe with atypical features: Early onset. I have come to this conclusion after considering the following information. The synopsis states that Ellen has been referred for a medication consultation by her Psychotherapist whom she has been seeing for the last two years. Criteria A states that the depressed mood has to be present for most of the day, for most days and that this depression must be indicated by “subjective account” or observed by others for at least two years.

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A 3 month old boy presents to with a history of reoccurring seizures. A physical examination shows that he is underweight. The appearance and head measurements show that he has growth deficiency and microcephaly. He shows characteristics of facial dimorphism a “Greek helmet” like face, his eyes are widely spaced with high arched eyebrows and micrognathia and club foot. The mother explains that she has been trouble feeding him.

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