FACIES IN MEDICINE

DR TRIPTHI

MASK LIKE FACIES A hypomimic, expressionless physiognomy or complete lack of facial affect, a finding characteristic of Parkinson's disease, which may be seen in depression, facio scapulao humeral-type muscular dystrophy, infantile botulism, Möbius' syndrome, myotonic dystrophy, Prader-Willi disease, Wilson's disease.

ELFIN FACIES

Facial features include wide-set eyes, low-set ears, and hirsutism; seen in children with congenital conditions such as leprechaunism and Williams syndrome.

MOON FACIES

Roundness of the face due to increased fat deposition laterally seen in patients with hyperadrenocorticalism, either of endogenous (e.g., Cushing's disease) or exogenous origin, such as the use of cortisone-like drugs as therapy.

SNARLING FACIES

Depiction of a

MYASTHENIC patient. (1)

marked asymmetrical ptosis (left eye almost closed with characteristically visible eyelashes); (2) conspicuous attempts to open eyes clearly visible due to highly elevated eyebrows and (3) characteristic flattened or

MITRAL FACIES

The classic mitral facies,due to mitral stenosis,is a plum-colored malar flush, occurs only when cardiac output is low and pulmonary hypertension is severe; cause is cutaneous vasodilation and chronic hypoxemia.

ADENOID FACIES

The appearance in children with adenoid hypertrophy, associated with a pinched nose and an open mouth

LEONINE FACIES

Characteristic facies seen in Lepromatous Leprosy. Diffuse dermal infiltration is always present subclinically and may be overtly manifested by widening of the nasal root and fusiform swelling of the fingers. Further cellular infiltration o f the skin and thickening of the dermis produces folds in the skin and the LEONINE facies.

BIRD FACIES

Characteristic facies seen in PIERRE ROBIN syndrome. A very small lower jaw is the commonest finding. But the growth of the mandible seems to normalize by the 5th year of life and gives a characteristic appearance called as "bird facies."The combination of a small lower jaw and the reverse tongue gives rise to acute breathing problems in a child because of airway blockage

DOWNS FACIES

Associated with Downs Syndrome- Trisomy 21

Mongoloid facies – flat nasal bridge, epicanthic folds, oblique palpebral fissures, Brushfields spots in iris, lenticular opacities, low set ears, large protuberant tongue.

SYPHILITIC FACIES

Characteristic of inherited syphilis. Snuffles, when long continued , is liable to interfere with the development of the nasal bones, so that when the child grows up there results a condition known as the “saddle-nose” deformity

COARSE FACIES

Coarse facies seen in most of the inborn errors of metabolism (IEM) viz. the muco- polysaccharidoses (MPS), mucolipidoses (ML), fucosidoses mannosidoses, sialidoses, aspartylglycosaminuria, generalised gangliosidosis(GMl ) and Austin's variant of metachromatic leukodystrophy due to multiple sulfatase deficiency (MLD-MSD)

POTTER FACIES Seen in Potter syndrome which refers to the typical physical appearance and associated pulmonary hypoplasia of a neonate as a direct result of oligohydramnios and compression while in utero.

Affected infants have a flattened nose, recessed chin, prominent epicanthal folds, and low-set abnormal ears.

MARFANOID FACIES

Seen in Marfans syndrome or conditions causing a marfanoid habitus.

Facies is typically a long and narrow

ACROMEGALIC FACIES

Seen in Acromegaly .It is represented by massive supraorbital arcs, enlargement of the nose and chin.

HATCHET FACIES

It is the Facial appearance of Myotonic dystrophy.Atrophy of masseter, temporalis and other facial muscles leads on to narrowing and elongation of face.