Common facial features include a flat and broad nasal bridge; epicanthic folds; wide mouth; short philtrum; everted lower lip; small and slightly receding chin during childhood.
22.
Children with the disease are dysmorphic facial features, including hypoplasia of the midface and wide nasal bridge, chronic metabolic acidosis, and hypotonia ( decreased muscular strength ).
23.
Clinical features can include mild / moderate mental retardation with mildly dysmorphic facial features ( long and narrow face, short philtrum and a high nasal bridge ).
24.
FWS is characterized mainly by skeletal abnormalities, which include nasal hypoplasia, a depressed or narrowed nasal bridge, scoliosis, and calcifications in the vertebral column, femur, and developmental disabilities.
25.
In this rare disorder, an elfin face _ with sagging cheeks, full lips and a depressed nasal bridge _ is accompanied by a narrowed aortic valve and brain defects.
26.
One medical study assessed three patients presenting megalencephaly who showed severely impaired motor and speech development as well as distinct facial abnormalities including skull bossing, a low nasal bridge and large eyes.
27.
Other findings that have been reported include macrocephaly ( 95 % ), large fontanelle, prominent forehead, flattening of the nasal bridge ( saddleback nose ), short and thick extremities, and finger clubbing.
28.
Some examples of the possible dysmorphic features include : downslanting palpebral fissures, broad nasal bridge, microcephaly, low-set ears, preauricular tags, round facies, short neck, micrognathia, and dental malocclusionhypertelorism, epicanthal folds, downturned corners of the mouth.
29.
Another case study, a child from consanguineous patients, presented as significant hypotonia in infancy, poor feeding, and dysmorphic facial features, including narrowed, downslanting palpebral fissures, short convex nose with depressed nasal bridge, microphthalmia, cataracts, and adducted thumbs.
30.
The nasal opening was tall but narrow, and the nasal bone ( now lost on the original Chancelade skull ), indicate a pronounced nasal bridge and large nose, similar to that found in some European and Middle Eastern people.
