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The development of the ears and auditory system may be affected in people with Noonan's syndrome. This can result in low-set ears (in over 90%), backward-rotated ears (over 90%), thick helix (outer rim) of ear (over 90%), incomplete folding of ears, chronic otitis media (ear infections), and hearing loss.
Low-set ears are defined as the outer ears being positioned two or more standard deviations lower than the population average. [1] Clinically, if the point at which the helix (curved upper part) of the outer ear meets the cranium is at or below the line connecting the inner canthi of eyes (the bicanthal plane), the ears are considered low set ...
Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. [2] [3] Less common features include congenital spinal abnormalities, hearing loss or seizures. [2] [4]
They all had long and uneven facial features, low-set hairlines, short fingers, and webbing between the second and third fingers and between the second, third, and fourth toes. A year later in 1932, F. Chotzen, a German psychiatrist , described a father and his two sons as having very similar characteristics as the mother and her daughters, as ...
While the symptoms of this group of brain development disorders vary, these are signs that a person may be on the autism spectrum. Skip to main content. 24/7 Help. For premium support please call: ...
Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [ 11 ] [ 22 ] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [ 11 ]
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
The first case was reported in 1989 by Wiedemann and colleagues which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate.