Most males have mild symptoms such as hypertelorism and a broad nasal base with bifid nose, but can also be a carrier of the mutation yet stay clinically unaffected.
12.
This can be an ethnic index or an indication for hypertelorism or hypotelorism, if it is combined with abnormal relation to the interpupillary distance ( A D STEAS ).
13.
Using an ultrasound, Pallister-Killian may be diagnosed through observation of hypertelorism, broad neck, shorts limbs, abnormal hands or feet, diaphragmatic hernia, and hydramnios.
14.
A missense mutation in " ACTG1 " at ptosis, excessively-arched eyebrows, hypertelorism, ocular colobomata, lissencephaly, short stature, seizures and hearing loss.
15.
Other possible symptoms of lissencephaly include telecanthus, estropia, hypertelorism, varying levels of mental retardation, cerebellar hypoplasia, corpus callosum aplasia, and decreased muscle tone and tendon reflexes.
16.
Common physical malformations are : craniosynostosis of the coronal suture ( s ), orbital hypertelorism, frizzy curled hair, longitudinal ridging and / or splitting of the nails, and facial asymmetry.
17.
Dr . Noonan produced a paper entitled " Hypertelorism with Turner Phenotype " in 1968, and in 1971 at the Symposium of Cardiovascular defects, the name'Noonan syndrome'became officially recognized.
18.
Exophthalmos ( bulging eyes due to shallow eye sockets after early fusion of surrounding bones ), hypertelorism ( greater than normal distance between the eyes ), and psittichorhina ( beak-like nose ) are also symptoms.
19.
In a broader sense, " triangular face " encompasses a constellation of a hypoplastic face with prominent zygomatic arches, orbital hypertelorism, sunken cheeks, down-turned mouth, and occasionally brownish facial discolouration.
20.
Those suffering of this syndrome often exhibit specific facial features such as a broad forehead, arched eyebrows, ptosis ( droopy eyelids ), hypertelorism ( widely spaced eyes ), low-set ears and a triangle shaped mouth.
