Mental retardation physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]
Overview
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Physical Examination
A detailed physical examination has three parts: [1]
- Anthropometry – provides an estimate of the nutrition, any underlying medical or genetic condition. Assessment includes: height, arm span, sitting height, weight, head circumference, chest circumference, abdominal circumference, intercanthal and interpupillary distances, and palm and foot lengths.
- Dysmorphology examination – this documents birth defects by conducting a head-to-toe examination to look for minor physical anomalies that could shed light on the etiology of ID.
- Examination of major organ systems- this could provide clues toward a disorder involving inborn error of metabolism. Assessment should include vision, hearing, and gait. Patients are referred to geneticists for further evaluation in case of a minor physical anomaly.
- Behavioral observation – this is to correlate the clinical history and intellectual and behavioral abilities. It starts with observing general appearance, any oddities in behavior, attention span, receptive and expressive speech, social skills.
- HEENT
- Scalp hair: sparse, light-colored, double whorl on the scalp, easily breakable
- Skull shape: brachycephaly, scaphocephaly, trigonocephaly, oxycephaly, plagiocephaly
- Facial appearance: coarse facies, elongated, triangular, small
- Eyes: deeply set, prominent, microphthalmia, upslanting/downslanting palpebral fissures, hypertelorism, strabismus, ptosis, bushy eyebrows, synopharys, microcornea, corneal clouding, cataracts, coloboma of the iris, blue sclera, telangiectasia
- Ears: low set, small, large, malformed, posteriorly rotated, anteverted, periauricular tags, pits, cup shape
- Nose: depressed nasal bridge, short and stubby, beak-shaped, bulbous tip, flaring, hypoplastic nostrils
- Palate: high-arched, ridged, cleft, bifid uvula
- Chin: prominent, retrognathia, micrognathia
- Chest: pectus excavatum, pectus carinatum, nipple anomalies, gynecomastia
- Abdomen: Protuberant, scaphoid, umbilical hernia, hepatosplenomegaly, inguinal hernia
- Genitourinary: micropenis, micro-orchidism or macro-orchidism, undescended testis, ambiguous genitalia, hypospadias, absent secondary sexual characteristics, shawl scrotum
- Neuromuscular: kyphosis, scoliosis, spina bifida
- Extremities
- Hands: broad, shorthands, simian crease, Sidney line, spade-shaped
- Fingers: clinodactyly, brachydactyly, syndactyly, camptodactyly, arachnodactyly, polydactyly
- Feet: Pes planus, pes cavus, valgus/varus, broad hallux, increased distance between 1st and 2nd toes
- Skeletal: exostoses, increase carrying angles, joint hypermobility
References
- ↑ Kishore MT, Udipi GA, Seshadri SP (January 2019). "Clinical Practice Guidelines for Assessment and Management of intellectual disability". Indian J Psychiatry. 61 (Suppl 2): 194–210. doi:10.4103/psychiatry.IndianJPsychiatry_507_18. PMC 6345136. PMID 30745696.