Sentence examples for distinctive facial appearance from inspiring English sources

Miller Dieker syndrome (MDS) is a rare disorder characterized by type I lissencephaly and a distinctive facial appearance that may include prominent forehead, bitemporal hollowing, and micrognathia.

Miller Dieker syndrome (MDS) is a rare disorder that is characterized by type I lissencephaly (smooth brain), a distinctive facial appearance, and often other abnormalities [1].

The deletion of WHSC1 is associated with many characteristic WHS features, including the distinctive facial appearance (Bergemann et al., 2005; Van Buggenhout et al., 2004).

Children born with germ-line mutations in BRAF, MEK1 or MEK2 develop cardio-facio-cutaneous (CFC) syndrome, an autosomal dominant syndrome characterized by a distinctive facial appearance, heart defects, skin and hair abnormalities and mental retardation.

Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities.

For example, in Kabuki syndrome, a dominantly inherited multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability, among 32 disease mutations found in 53 families, 27 (20 nonsense mutations and 7 indels) resulted in a premature stop codon [ 11, 48].

The overlapping clinical features, including heart defects, distinctive facial appearances, skin and hair abnormalities, short stature and mental retardation, propelled the discovery that these syndromes are caused by germ-line mutations in the same genetic pathway, and reflect a common underlying molecular pathogenesis through mutation of core components of the Ras/MAPK signalling pathway.

Children have typical facial appearance (macrocephaly and frontal bossing).

First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood.

Ear position contributes significantly to facial appearance.

By subtle exaggeration of already distinctive facial features (arched eyebrows or sharp cheekbones for example) the researchers were able to increase the memorability of a face without drastically changing the individual's appearance.