Features of 3C Syndrome
Diagnostic criteria used to diagnose patients with normal chromosomes:
-
- Complicated congenital heart disease
- Dandy–Walker syndrome malformation or vermian hypoplasia
- Craniofacial malformations
-
- either cleft palate or ocular colobomas
- or four of the following;
-
- prominent occiput, prominent forehead, hypertelorism, micrognathia, depressed nasal bridge, down slating palpebral fissures, low set ears, and depressed nasal bridge.
Some additional symptoms include:
-
- rib abnormalities
- hypospadias
- renal hypoplasia
- anal abnormalities
- lymphedema
- human growth hormone deficiency
- single umbilical artery
- heterochromia iridis
- severe motor retardation, which might be related to hypotonia
-
- delayed walking age (mean: 19 months)
- affected speech
- postnatal growth deficiency
-
- feeding dysfunction (gastro-oesophageal reflux, severe feeding difficulties)
Read more about this topic: 3C Syndrome
Famous quotes containing the words features of, features and/or syndrome:
“Art is the child of Nature; yes,
Her darling child, in whom we trace
The features of the mother’s face,
Her aspect and her attitude.”
—Henry Wadsworth Longfellow (1807–1882)
“However much we may differ in the choice of the measures which should guide the administration of the government, there can be but little doubt in the minds of those who are really friendly to the republican features of our system that one of its most important securities consists in the separation of the legislative and executive powers at the same time that each is acknowledged to be supreme, in the will of the people constitutionally expressed.”
—Andrew Jackson (1767–1845)
“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leech’s daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (1906–1989)