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:
“The features of our face are hardly more than gestures which force of habit made permanent. Nature, like the destruction of Pompeii, like the metamorphosis of a nymph into a tree, has arrested us in an accustomed movement.”
—Marcel Proust (1871–1922)
“The features of our face are hardly more than gestures which force of habit made permanent. Nature, like the destruction of Pompeii, like the metamorphosis of a nymph into a tree, has arrested us in an accustomed movement.”
—Marcel Proust (1871–1922)
“[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)