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]

Neonates usually present with severe respiratory distress and cyanosis. [orpha.net]

• Fishing

  This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy. [ncbi.nlm.nih.gov]

• Wound Infection

  Twenty-three patients with wounds resulting from pressure necrosis, radiation injury, and postoperative wound infection and dehiscence were successfully reconstructed. [ncbi.nlm.nih.gov]

• Short Stature

  A 26·6 Mb deletion, 2q12·3-q21·3, encompassing GLI2 and 77 other genes, was identified in a patient with short stature and impaired growth. [ncbi.nlm.nih.gov]

• Heart Failure

  The main causes of death are tachyarrhythmias, bradycardia, low blood pressure, rupture of the diverticulum, and heart failure. The documents contained in this web site are presented for information purposes only. [orpha.net]

• Suggestibility

  These findings suggest that the distal region on 18p is involved in the main clinical features, and GH deficiency, in 18p deletions. [ncbi.nlm.nih.gov]

• Cleft Lip and-or Palate

  Additional features that may be observed include craniofacial and central nervous system (CNS) anomalies (cleft lip and/or palate, encephalocele, craniorachischisis (see these terms) and hydrocephalus), limb defects (club foot, absence of tibia/radius [orpha.net]

• Median Cleft Lip

  The following report is of a patient with OFDS VI and characteristic multiple midline defects: median cleft lip and palate, lingual cleft with nodules, and midline brain malformation. [ncbi.nlm.nih.gov]

• Short Neck

  A nonsynonymous variant, c.2159G A [p.R720H], was identified in a patient with a short neck, cleft palate and hypogonadotrophic hypogonadism. [ncbi.nlm.nih.gov]

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]

In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. [ncbi.nlm.nih.gov]

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]

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 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]

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]

Summary Epidemiology The prevalence of POC is estimated to be 1/65,000-1/200,000 live births. [orpha.net]