Presentation
Neonates usually present with severe respiratory distress and cyanosis. [orpha.net]
When present, facial anomalies are reminiscent of Treacher-Collins syndrome, and both DBA and Treacher-Collins syndrome are disorders of ribosomal biogenesis. [ncbi.nlm.nih.gov]
Entire Body System
- Disability
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Workup
Ophthalmological workup revealed bilateral morning glory disc anomaly. MRI showed duplication of the pituitary stalk and caudal displacement of the floor of the third ventricle. [ncbi.nlm.nih.gov]
Treatment
Other treatment of pentalogy of Cantrell is symptomatic and supportive. Pentalogy of Cantrell occurs in 1/65,000 to 1/200,000 live births. It was first characterized in 1958. [en.wikipedia.org]
In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. [ncbi.nlm.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Prognosis The prognosis of POC is poor and only few patients survive through early childhood. The main causes of death are tachyarrhythmias, bradycardia, low blood pressure, rupture of the diverticulum, and heart failure. [orpha.net]
Arch Ophthalmol 108:1562–1567 CrossRef PubMed CAS Google Scholar Mighel AS, Johnstone ED, Levene M (2009) Postnatal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. [link.springer.com]
Etiology
Etiology The etiology of POC is still unknown. [orpha.net]
The combination of these findings may be syndromic and may have an underlying genetic etiology. [ncbi.nlm.nih.gov]
Epidemiology
Summary Epidemiology The prevalence of POC is estimated to be 1/65,000-1/200,000 live births. [orpha.net]
Pathophysiology
Studies of the Pathophysiology of Gastroschisis in Feti.il Sheep. J. Pediatr Surj. 9: 627-632, 1974. HOLDER, T., ASHCRAFT K.: Pediatric Surgery. Philadelphia: W.B. Saunders Company, 1980: 738-751. HOWELL, C.. CALDAMONE, A., SNYDER H.: Optima! [revista.fecolsog.org]
Studies ofthe Pathophysiology of Gastrosehisis in Fetal Sheep. J. Pediatr. Surg. 9:627-632, 1974. (19) Holder, T., Ashcraft K: Pediatric Surgery. [revistamedicina.net]