Trigonocephaly And Angels Kisses

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accessory nipple Additional nipple, unilateral or bilateral, on the trunk, lying on the "milk line"which runs caudally from the normal position of the nipples and cranially toward the axilla. acrocephaly Tall or high skull; the top of the head is pointed, peaked, or conical in shape; usually involving premature closure of the lambdoid and coronal sutures, with a vertical index above 77; also referred to as oxycephaly, turricephaly, and tower skull. acromelic Referring to the distal portion of the limb. ala nasi The most lateral part of the nose: the flaring cartilaginous area forming the outer side of each naris (nostril). albinism Deficiency or absence of pigment in the hair, skin, and/or eyes. alopecia Absence, loss, or deficiency of hair; may be patchy or total; transient or congenital, natural or abnormal. aniridia Absence of the iris.

anisomastia Asymmetric or irregular size of the breasts. anisocoria Unequal pupil size.

ankyloblepharon Adhesion of the ciliary edges of the eyelids to each other. anodontia Absence of teeth. anonychia Absence of nails.

anophthalmia Congenital absence or hypoplasia of one or both eyes. anthropometrics The study of comparative measurements of the human body.

aphakia Absence of the lens of the eye.

arachnodactyly Long slender hands, feet, fingers, and toes; spider fingers, dolichostenomelia. areola Pigmented skin surrounding the nipple.

arrhinencephaly Congenital absence of the rhinencephalon (hind brain). arrhinia Congenital absence of the nose.

bathrocephaly A step-like posterior projection of the skull, caused by bulging of the squamous portion of the occipital bone. biacromial distance Maximum distance between the right and left acromion (shoulder width).

bigonial distance Distance between the lateral aspect of the angle of the jaw on the right and the same point on the left (mandible width).

bi-iliac distance Distance between the most prominent lateral points of the iliac crest.

birth mark Regionally limited alteration of skin color caused by vascular or pigment-distribution anomalies. bizygomatic distance Maximal distance between the most lateral points on the zygomatic arches (zygion) (facial width). Blaschko line Streak of pigmented skin reflecting embryonic migration of pigment-producing cells. blepharochalasis Relaxation or redundancy of the skin of the upper eyelid, so that a fold of skin hangs down, often concealing the corner of the eye. blue nevus Bluish macular area, mostly over the sacrum and back. More frequent in African, American, Hispanic, and Asian people. bone age Radiological assessment of physiological age relating growth and skeletal maturation; stage of development of the skeleton as judged by X-rays and compared with chronological age. bony interorbital distance The distance between the medial margins of the bony orbit, measured radiographically. brachycephaly Shortening of the length of the skull; the cephalic index is

81.0 to 85.4 brachydactyly Short finger.

brachyturricephaly Combination of shortening of the skull (brachycephaly) along with towering of the skull (turricephaly, oxycephaly, or acrocephaly).

Brushfield spot Mottled, marbled, or speckled elevation of the iris due to increased density of the anterior border layer of the iris; white or light yellow iris nodule caused by deposition or aggregation of stromal fibrocytes; observed in 85 percent of patients with Down syndrome. Can be noted in the normal population (about 25 percent). buphthalmos Congenital glaucoma; keratoglobus, or enlargement of the eye.

cafe-au-lait macule Macular area of increased pigment greater than 0.5 cm in diameter. More than five cafe-au-lait spots of 1.5 cm or greater can be a sign of neurofibromatosis. calipers Instrument used for measuring distance or thickness. calvarium Upper, dome-like portion of the skull.

camptodactyly Flexion contracture of a finger or toe; permanent flexion of one or both interphalangeal joints of one or more fingers; bent fingers.

canthal distance, inner Distance between the inner canthi (inner corners) of the two eyes. canthal distance, outer Distance between the outer canthi (outer corners) of the two eyes.

capillary hemangioma Pink macular mark, localized over the forehead, face, or nape of the neck in the newborn (angel's kiss, salmon patch, stork bite, nevus simplex, erythema nuchae). Represents the fetal circulatory pattern in the skin and will resolve spontaneously. carpal angle Angle made by the carpal bones at the wrist. carrying angle Angle subtended by the forearm on the humerus; the deviation of the forearm relative to the humerus; the angle at the elbow joint. cavernous haemangioma Elevated vascular nevus or strawberry nevus of solid red color.

cebocephaly Form of holoprosencephaly with ocular hypotelorism and a centrally placed nose with a single blind-ended nostril. cephalic index The ratio of head width, expressed as a percentage of head length:

head width 100

head length cephalometrics The science of precise measurement of bones of the cranium and face, using fixed reproducible positions. cheilion Most lateral point of the corner of the mouth. chest circumference Circumference of the chest at the level of the nipples. chordee Abnormal position of the penis caused by a band of tissue that holds the penis in a ventral or lateral curvature. clinodactyly Permanent lateral or medial curve (deflection) of one or more fingers or toes. coloboma Fissuring defect especially of the eye; may involve several layers (i.e., iris, retina, lid), usually congenital, but may be of traumatic origin. columella Fleshy inferior border of the septum of the nose. concha Structure resembling a shell in shape (e.g., hollow of the external ear, turbinate bone). cornea, transverse diameter Distance between the medial and lateral border of the iris.

craniorachischisis Congenital failure of closure of the skull and spinal column.

crown-rump length Distance from the top of the head to the bottom of the buttock, with hips in flexion. cubitus valgus Increased carrying angle at elbow. cuticle Remnant of the eponychium at the base of a fingernail.

cutis aplasia Absence of skin in specific area; commonly of the scalp at the vertex.

cryptophthalmos Complete congenital adhesion of the eyelid; fused eyelid. cryptorchidism Failure of the testis to descend into the scrotum. cystic hygroma Sac, distended with lymphatic fluid, found usually in the neck.

dental age Physiological age of teeth as determined by the number and type of teeth that have erupted or been shed. Denver Developmental Screening Test A screening test for gross motor, fine motor-adaptive, language, and personal-social skills. depigmentation Area of absent or reduced pigment due to lack of functional melanocytes. Leaf-shaped area of depigmentation can be a sign of tuberous sclerosis. dermal ridge count Number of dermal ridges in a particular dermal ridge pattern.

dermatoglyphics Pattern of ridges and grooves of the skin, best seen on the palms and soles. dermatome Segmental area of skin defined by the distribution of sensory innervation. dermis Underlying layer of the skin.

developmental delay Delay in acquisition of developmental milestones in comparison with age-related cohort. dimple Indentation of the skin where the skin is deficient or attached to underlying structures, especially bone. dolichocephaly Elongation of the skull; with narrowing from side to side.

Cephalic index is 75.9 or less (see also scaphocephaly). dystopia canthorum Lateral displacement of the inner canthi of the eye.

ear length Maximum distance from the superior aspect to the inferior aspect of the external ear (pinna). ear position Location of the superior attachment of the pinna. Note that the size and rotation of the external ear are not relevant. ear protrusion Protrusion of each ear, measured by the angle subtended from the posterior aspect of the pinna to the mastoid plane of the skull. ear rotation/angulation Rotation of the longitudinal axis of the external ear (pinna).

ear width Width of the external ear (pinna), from just anterior to the tragus to the lateral margin of the helix. ectopia Misplaced structure.

ectopia lentis Displacement of the crystalline lens of the eye.

ectopia pupillaris Abnormal eccentric location of the pupil. ectropion Eversion or turning out of an edge (e.g., of an eyelid or of the lip). encephalocele Herniation of the brain, manifested by protrusion through a congenital or traumatic opening of the skull; can be frontal or occipital. enophthalmus Abnormal retraction of the eye into the orbit, producing a deeply set eye. entropion Inversion of an edge (e.g., of the eyelid). epicanthal fold Congenital fold of tissue medial to the eye consisting of a vertical fold of skin lateral to the nose, sometimes covering the inner canthus.

epidermis Superficial layer of the skin.

epiphora Abnormal overflow of tears down the cheek; mainly caused by stricture of the nasolacrimal duct. epispadias Abnormal location of the urethra on the dorsal surface of the penis.

eponychium Epidermal layer which covers the developing fingernail prenatally.

esotropia Inward deviation of an eye when both eyes are open and uncovered; convergent strabismus. ethmocephaly Form of holoprosencephaly in which there are two separate but hypoteloric eyes and a supraorbital proboscis. eurion Most prominent lateral point on each side of the skull in the area of the parietal and temporal bones. exophthalmos Abnormal protrusion of the eyeball. exotropia Outward deviation of an eye when both eyes are opened and uncovered; divergent strabismus.

facial height Distance from the root of the nose (nasion) to the lowest median landmark on the lower border of the mandible (menton or gnathion); lower twothirds of the craniofacies. facial height, lower Distance from the base of the nose (subnasion) to the lowest median landmark on the lower border of the mandible (menton or gnathion); length of the lower onethird of the craniofacies. facial height, upper Distance from the root of the nose (nasion) to the base of the nose (subnasion); middle onethird of the craniofacies. facial index Ratio of facial height (nasion to menton) to facial width (bizygomatic distance) used to assess a long, narrow face as compared with a short, wide face. facial width See bizygomatic distance.

finger clubbing Enlargement of the distal part of the finger and nail, with abnormally curved nail and loss of the angle at the nail fold.

flexion crease Crease in skin overlying a joint; secondary to movement at that joint.

fontanelle (fontanel) Membrance-covered space remaining in the incompletely ossified skull of a fetus or infant. fontanelle size, anterior Sum of the longitudinal and transverse diameters of the anterior fontanella along the sagittal and coronal sutures.

fontanelle size, posterior Length of the posterior fontanelle. forehead height See skull height.

Frankfort plane (FP) Eye-ear plane that is a standard horizontal cephalometric reference. The Frankfort plane or Frankfort horizontal is established when the head is held erect, with the eyes forward, so that the lowest margin of the lower bony orbit (orbitale) and the upper margin of the external auditory meatus (porion) are in the same horizontal plane (the Frankfort plane). frenulum Small fold of integument or of mucous membrane that may limit the movement of an organ or part, (e.g., beneath the tongue). frontal bossing Prominence of the anterior portion of the frontal bone of the skull.

gastroschisis Congenital fissure of the abdominal wall not involving the site of insertion of the umbilical cord, and usually accompanied by protrusion of the small and part of the large intestine. genu recurvatum Hyperextension of the knee. genu valgum Outward bowing of knee; bow-leg. genu varum Inward deviation of the knee; knock-knee. gibbus Extreme kyphosis or hump; deformity of the spine in which there is a sharply angulated segment, the apex of the angle being posterior. glabella The most prominent midline point between the eyebrows. glossoptosis Downward displacement or retraction of the tongue; sometimes held by a frenulum. gnathion The lowest median point on the inferior border of the mandible; see menton. gonion The most lateral point of the posteroinferior angle of the mandible.

head circumference Distance around the head at its largest part. head length Maximum dimension of the sagittal axis of the skull. head width Maximal biparietal diameter.

height Distance from the top of the head to the sole of the foot in a standing position.

heterochromia Unequal color, usually used in reference to the iris. 482

holoprosencephaly Impaired midline cleavage of the embryonic fore-brain, the most extreme form being cyclopia; a less severe form is arrhinencephaly.

hydrocephaly Abnormal increase in the amount of cerebrospinal fluid accompanied by dilatation of the cerebral ventricles. hyperextensibility Excessive capability of the skin to stretch; excessive range of movement at a joint. hypertelorism Abnormal distance between two organs or parts; commonly used to describe increased interpupillary distance (ocular hypertelorism). hypoacusis Decreased perception of sound. hypodontia Reduced number of teeth (see also oligodontia). hyponychia Small dysplastic nails.

hypospadias Abnormal location of the urethra on the ventral surface of the penis; may be glandular (1«>), penile (2«>), scrotal (3«>), or perineal (4«>).

hypotelorism Abnormally decreased distance between two organs or parts, commonly used to describe decreased interpupillary distance (ocular hypotelorism).

imperforate anus Absence of the normal anal opening. intelligence quotient (IQ) General intellectual functioning as assessed by special tests.

interalar distance (nasal width) Distance between the most lateral aspects of the alae nasi. intercommissural distance Mouth width at rest; the distance between the two outer corners of the mouth (cheilion). internipple distance Distance between the centers of both nipples. interpupillary distance Distance between the centers of the pupils of the two eyes.

inverted nipple Inwardly directed tip of the nipple; nipple does not protrude from the areola. iridodonesis Tremor of the iris on movement; usually due to dislocation of the lens.

Kayser-Fleischer ring Greenish-brownish pigment ring due to the deposition of copper at the outer edge of the cornea; as noted in Wilson disease. keratoconus Conical protrusion of the cornea. koilonychia Spoon-shaped nails.

kyphoscoliosis Abnormal curvature of the spinal column, both antero-

posteriorly and laterally. kyphosis Curvature of the spine in the anteroposterior plane. A normal kyphosis exists in the shoulder area.

lagophthalmos Condition in which the eyelid cannot be completely closed.

lanugo Embryonic or fetal hair; fine, soft, unmedullated.

length Distance between the top of the head and the sole of the foot when the individual is lying down (height). lentigo Round or oval, flat, brown, pigmented skin spot caused by increased deposition of melanin, in association with an increased number of melanocytes at the epidermodermal junction. leukoma Dense white opacity of the cornea. leukonychia White spots or stripes on the nails. lingua plicata Fissured tongue.

Lisch nodule Hamartomatous iris structure, usually visible only by slit lamp.

lordosis Curvature of the spinal column with a forward (ventral) convexity.

A normal lordosis exists in the lumbar area. lower segment Distance from the pubic bone to the sole of the foot. lymphangioma Overgrowth of lymphatic vessels.

macrocephaly Abnormally large head. macrocranium Abnormally large skull. macrodactyly Abnormally large digit. macrocheilia Abnormal or excessive size of the lip. macroglossia Abnormally large or hypertrophic tongue. macromastia Abnormally large breast. macronychia Abnormally large nail. macrophthalmia Abnormally large eye. macrostomia Abnormally large mouth. mandible width See bigonial distance.

mandibular length, effective Effective length and prominence of the mandible (cephalometric). manubrium Cranial portion of the sternum which articulates with the clavicles and the first two pairs of ribs. maxillomandibular differential Measurement determined by subtracting the effective midfacial length from the effective mandibular length (cephalometric). megalocephaly Abnormally large head. melanocyte Pigment cell in the skin.

menton The lowest medial landmark on the lower border of the mandible, identified by palpation, and identical to the bony gnathion. mesomelic Referring to the middle segment of the limb. microcephaly Abnormally small head. microcranium Abnormally small skull.

microgenia Abnormally small chin; an alternative term for micrognathia. microglossia Abnormally small tongue.

micrognathia Abnormally small jaw, especially with lower jaw recession

(small chin). micronychia Abnormally small nail. microphthalmia Abnormally small eye. microstomia Abnormally small opening of the mouth. microphallus Abnormally small penis; micropenis. midfacial length, effective Size and prominence of the maxilla

(cephalometric). mid-parental height Sum of parents' heights divided by two. miosis Small, contracted pupil.

mole Circumscribed area of dark pigment which is often raised. monilethrix Hair exhibiting marked multiple constrictions, with a beading effect and increased brittleness. mouth width See intercommissural distance. mydriasis Large, dilated pupil.

nasal height the distance from the nasal root (nasion) to base (subnasion). nasal width See interalar distance.

nasion Midline point at the nasal root over the nasofrontal suture. nevus sebaceous Raised waxy patch, with a mostly linear distribution. nipple Papilla of the breast.

Nystagmus Involuntary rapid movement of the eyeball which may be horizontal, vertical, rotatory, or mixed.

obliquity (slant) of the palpebral fissure Slant of the palpebral fissure from the horizontal. occipitofrontal circumference (OFC) Distance around the head, the largest obtainable measurement (head circumference). oligodontia Less than the normal number of teeth (see hypodontia). omphalocele Protrusion, at birth, of part of the intestine through a defect in the abdominal wall at the umbilicus. Protruding bowel is covered only by a thin transparent membrane composed of amnion and peritoneum. ONO angle Angle subtended from the base of the nose in the midline to the outer canthi of the eyes.

opisthocranion Most posterior portion of the occipital bone in the midline. ophthalmoplegia Paralysis of the eye muscles. orbital protrusion Degree of protrusion of the eye (exophthalmos). orbitale The lowest point of the inferior bony margin of the orbit, identified by palpation. orchidometer Measuring device for quantifying testicular size. oxycephaly see acrocephaly.

pachyonychia long thickened nails.

palpebral fissure length Distance between the inner and outer canthus of one eye.

pattern profile Analysis of hand bone length, used to recognize particular syndromes.

pectus carinatum Undue prominence of the sternum, often referred to as pigeon chest.

pectus excavatum Undue depression of the sternum, often referred to as funnel chest.

pes calcaneovalgus Dorsiflexion of the foot due to a contracture of foot

(rocker bottom foot). pes cavus High arched foot with metatarsal heads pushed down (claw foot). pes equinovarus Planter flexion with internal rotation of ankle joint

(club foot). pes valgus External rotation at ankle joint.

philtrum Ventrical groove in the midline of the upper lip, extending from beneath the nose to the vermilion border of the upper lip. pili annulati Defect of keratin synthesis resulting in a irregular distribution of air-filled cavities along the hairshaft, which reflects the light differently and appears as alternating bands of white. pili torti Hair twisted by 180-degree angle. plagiocephaly Asymmetric head shape.

Poland anomaly Absent or hypoplastic nipple and/or breast tissue in association with aberrant or hypoplastic pectoral development and limb deficiency. polydactyly Extra digit. polysyndactyly Extra digit with fused digits. polythelia Occurrence of more than one nipple on a breast. porion Highest point on the upper margin of the cutaneous external auditory meatus.

postaxial Posterior or lateral to the axis (as in postaxial polydactyly where the extra finger is lateral to the fifth finger). portwine naevus Dark angioma, which can be purple in color and raised.

preaxial Anterior or medial to the axis (as in preaxial Polydactyly where the extra digit is medial to the thumb). prognathism Protrusion of the jaw.

prolabium Prominent central part of the upper lip, in its full thickness, which overlies the premaxilla. pronasale Most protruded point of the tip of the nose. pterygium Wing-shaped web; with regard to the eye, a patch of thickened conjunctiva extending over a part of the cornea. The membrane is usually fan-shaped, with the apex toward the pupil and the base toward the inner canthus. With regard to the limbs, a skin web across a joint.

pterygium colli Thick fold or web of skin on the lateral aspect of the neck, extending from the mastoid region to the acromion. ptosis Falling or sinking down of any organ (e.g., a drooping of the upper eyelid or breast).

range of movement Range of place or position through which a particular joint can move. retrognathia Retrusion of the jaw back from the frontal plane of the forehead.

rhizomelic Referring to the proximal portion of the limb. saddle nose Nose with a sunken bridge.

scaphocephaly Abnormally long and narrow skull as a result of premature closure of the sagittal suture (see also dolichocephaly). scoliosis Appreciable lateral deviation from the normally straight vertical line of the spine. shawl scrotum Congenital ventral insertion of the scrotum. single palmar crease Single crease extending across palm. sitting height Distance from the top of the head to the buttocks when in sitting position.

skinfold thickness Thickness of skin in designated areas (triceps, subscapular, suprailiac), used to assess subcutaneous fat and nutrition. skull height (forehead height) Distance from the root of the nose

(nasion) to the highest point of the head (vertex). span Distance between the tips of the middle fingers of each hand when the arms are stretched out horizontally from the body. Sprengel deformity Congenital upward displacement of the scapula. stadiometer Upright measuring device.

sternal length Length of the sternum from the top of the manubrium to the inferior border of the xiphisternum.

stellate iris Iris pattern (star-like) with prominent iris stroma radiating out from the pupil. strabismus Deviation of the eye; the visual axes assume a position relative to each other different from that required by physiological conditions. The various forms of strabismus are spoken of as tropias, their direction being indicated by the appropriate prefix, as in esotropia, exotropia, and so on.

subalare Point at the inferior border of each alar base, where the alar base disappears into the skin of the upper lip. submental Situated below the chin.

subnasale Midpoint of the columella base at the apex of the angle where the lower border of the nasal septum and the surface of the upper lip meet.

symblepharon Adhesion of the eyelid to the eyeball. symphalangy Extension contracture of a finger or toe with fusion of the joint.

syndactyly Webbing or fusion of fingers or toes.

synechia Adhesion of parts; especially, adhesion of the iris to the cornea or to the lens.

syngnathia Intraoral bands, possibly remnants of the buccopharyngeal membrane, extending between the jaws. synophrys Confluent eyebrow growth across the glabella.

talipes/clubfoot Fixed abnormal position of foot due to contracture at ankle; equinovarus, calcaneovalgus. Tanner stages Grading system to establish visual standards for the stages of puberty.

telangiectasis Prominence of blood vessels on the surface of the skin. telecanthus Increased distance between the inner canthi of the eyes. testicular volume Volume of the testis established by an orchidometer, or calculated from measurement or ultrasound. thoracic index Ratio of the anteroposterior diameter of the chest to the chest width.

torso length Distance from the top of the sternum to the symphysis pubis.

torticollis Contracted state of the cervical muscles, producing twisting of the neck, resulting in an unnatural position of the head. The most common causes for this condition are trauma, inflammation, or congenital malformation involving the cervical vertebrae and/or the sternocleidomastoid muscle on one side.

tragion Superior margin of the tragus of the ear. trichoglyphics Pattern of hair follicles.

trichorrhexis Nodular swelling of the hair. The hair is light colored and breaks easily.

trigonocephaly Triangular-shaped head and skull resulting from premature synostosis of the portions of the frontal bone with prominence of the metopic suture. triphalangeal thumb Thumb with three phalanges. triradius Dermatoglyphic pattern where three sets of ridges converge. turricephaly see acrocephaly.

umbilical cord length Length of the umbilical cord from the insertion at the placenta to the abdominal wall of the neonate. upper segment Distance from the top of the head to the pubic bone.

vermillion border Red colored edge of the lip where it meets the normal skin of the face.

vertex Highest point of the head in the midsagittal plane, when the head is held erect.

weight Heaviness of an object or individual.

widow's peak Pointed frontal hairline in the midline which may be seen with ocular hypertelorism. wormian bone Small, irregular bone in the suture between the bones of the skull.

xiphoid process Most caudal bone of the sternum which articulates with the manubrium and the lowermost ribs.

zygion Most lateral point of each zygomatic arch.

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