Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome

Digoy, G. Paul; Greenberg, Mark; Magit, Anthony

doi:10.1016/j.ijporl.2005.04.003

Cited by 8 publications

(6 citation statements)

References 6 publications

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“…All these cardiac anomalies lead to a decreased life expectancy in these patients [1,3,16]. Twenty percent of the cases present with genitourinary abnormalities, this could be agenesis or dysplasia of kidneys or renal system, or ectasia of the ureters and kidney stones [18]. Various abnormalities related to haematology have come to light.…”

Section: Discussionmentioning

confidence: 99%

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence

Ghosh¹,

Sahai²,

Agrawal³

et al. 2022

Cureus

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Ellis-Van Creveld syndrome (EVCS) is an abnormal genetic condition of the EVC2 gene located on chromosome 4. In this case, the person presents with bone growth abnormalities, thus having a short stature, short arms and legs (more commonly the forearm and lower leg), a narrow chest with short ribs, polydactyly, spoon-shaped or malformed nails, abnormalities in dentition, and congenital heart defects like atrial septal defects and ventricular septal defects. In this case report, we present a 4.5-year-old female child who presented with cough and cyanosis as signs and tachypnea, tachycardia, facial oedema, cold, and clubbing as symptoms with polydactyly and short stature focuses on a rare presentation of a syndromic disease known as EVCS.

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Section: Discussionmentioning

confidence: 99%

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence

Ghosh¹,

Sahai²,

Agrawal³

et al. 2022

Cureus

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“…Doğum sonrası solunum sıkıntısı olan hastamızda da çan şeklinde göğüs kafesi, trident pelvik kemik, kostalarda kısalık olduğu tespit edildi. Hastamızın ayırıcı tanısında kalp bulgularının, tırnak displazisinin olmaması toraks bulgularının belirgin olması nedeniyle Ellis Van Creveld Sendromundan, laringeal stenozu olmaması nedeniyle de Barnes sendromundan uzaklaşıldı (7,8). Yarık damak ve dudak olmaması ile Majewski sendromundan uzaklaşıldı.…”

Section: Discussionunclassified

Yenidoğan döneminde tanı alan Asfiktik Torasik Distrofi (Jeune Sendromu) vakası

Kahveci¹,

Dizdar²,

Sarı³

2020

Jinekoloji-Obstetrik Ve Neonatoloji Tıp Dergisi

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Jeune syndrome is a skeletal chondrodystrophy, which is rarely seen in autosomal recessive inheritance. Patients usually die from respiratory failure in early infancy. The disease includes a broad clinical picture, including renal dysplasia, hepatic, and pancreatic fibrosis. Here we present a case with Jeune syndrome diagnosed by detecting thoracic anterior, posterior, and transverse diameter narrowing, flattening in the acetabular ceiling. We aimed to emphasize the necessity of early diagnosis and follow-up, as they carry the risk of sudden death.

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“…[6] Ellis Van Creveld Syndrome can be diagnosed during the prenatal period ,starting from the 18th week of gestation, by ultrasonography. [7] Molecular genetic testing (DNA mutation analysis) can be done by amniocentesis or chorionic villi biopsy. [8] Differential diagnosis includes Jeune syndrome and Orofaciodigital syndromes.…”

Section: Discussionmentioning

confidence: 99%

Ellis Van Creveld Syndrome - A perinatal autopsy case report

Pradhan¹

2013

IOSR-JDMS

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Congenital stridor secondary to an upper airway cyst in a patient with Ellis-van Creveld syndrome

Cited by 8 publications

References 6 publications

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence

Ellis-Van Creveld Syndrome: A Rare Case Report of an Indian Child With Rare Cardiac Anomalies and Normal Intelligence

Yenidoğan döneminde tanı alan Asfiktik Torasik Distrofi (Jeune Sendromu) vakası

Ellis Van Creveld Syndrome - A perinatal autopsy case report

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