pemeriksaan dismorfologi

History checklist

Use this checklist to take a detailed history of the mother and infant:

• Obstetric history
• recurrent miscarriages
• uterine abnormalities
• Pregnancy history
• note exposure to any teratogens
• amniotic fluid volume
• results of ultrasound and amniocentesis/CVS
• Fetal growth and movements
• Maternal illness and medications taken
• Birth history
• Apgar scores, resuscitation required
• Family history of abnormalities, stillbirths, childhood deaths
• Consanguinity

Examination checklist

• The following focuses on the examination for dysmorphic features in a baby
• A thorough examination of all systems is vital when considering a syndrome diagnosis.

Growth

Assess whether the baby's growth parameters are in proportion as well as the percentiles:

• Birth weight
• Length
• Head circumference

Ectodermal features

Examine the skin and hair:

• Skin
• texture
• colour
• birthmarks
• redundancy
• defects
• Hair
• scalp hair
• body hair
• colour
• distribution
• position of anterior and posterior scalp hairline

Skull

Examine the skull:

• shape
• symmetry
• sutures (over-riding/normal/widely open)
• fontanelle size and number

Face overall impression

In examining the face, it can be useful to first gain an overall impression of the facial appearance. Sometime, an overall gestalt can be diagnostic (e.g. Down syndrome).
If no diagnosis is made it is important to divide the face into sections to examine it thoroughly.
You may divide the face into the forehead, midface and oral region. It can sometimes help to cover parts of the face with your hand, in order to isolate the section of the face you are assessing.
In assessing the face, it is important to view the face from the front and from the lateral view. The depth or height of structures such as the nasal bridge, the position of the mandible relative to the maxilla and the development of the midface are best assessed by the lateral view.

Face shape

Examine the overall face shape, symmetry and facial muscle movement:

Forehead region

When examining the forehead assess:

• forehead shape - (broad/bitemporal narrowing/tall)
• eyes
• palpebral fissure length (short/long)
• palpebral fissure slant (up/down)
• epicanthic folds - a fold of skin which arcs from below the eye into the upper lid
• eye spacing (use a rough guide of 1:1:1 for the ratio of left palpebral fissure length: inner canthal distance: right palpebral fissure length)
• palpebral fissure shape
• red reflex
• iris colour
• pupil shape
• retina
• globe position (assessed from lateral view: protuberant vs deep set globes)

Midfacial region

When examining the midfacial region assess:

• Nose - divide the nose into 3 sections from the lateral view from superior to inferior into the nasal root, bridge and tip:
• root
• bridge (depressed/prominent/broad)
• tip 
• columella (the vertical ridge separating the nostrils)
• nostrils - patency, position (anteverted nostrils often reflect a short nose)
• Ears - ear rotation is normally 15 degrees posterior to the vertical plane of the head
• ear shape and structure

Oral region

When examining the oral region of the face note:

• mouth size and shape
• lip shape, thickness
• gum thickness
• philtrum definition and length
• jaw position (prognathia/micrognathia)
• palate shape
• oral cavity - natal teeth/frenulum/tongue size and morphology

Hands and feet

Examine hands and feet carefully:

• Overall shape and size of hand and foot
• Digit number
• Digit shape (e.g. clinodactyly) and length
• Webbing between digits
• Palmar, plantar and digit creases
• Nail morphology

Joints and skeleton

Examine joints and skeleton for:

• contractures
• limb shortening
• joint range of movement
• soft tissue webbing across joints (pterygium)
• sternum length and shape (pectus carinatum / pectus excavatum)
• shape of thoracic cage
• spine length, straight/curved
• neck length, webbing

Genitalia and anus

Check the following:

• phallus size, morphology
• development of scrotum and palpation of testes
• development of labia
• position of anus relative to genitalia
• patency of anus

Examine family members

Examination of other family members (siblings and parents) may be crucial to determine whether any dysmorphic features noted are familial or syndromic

sumber : http://www.health.vic.gov.au/neonatalhandbook/assessment/dysmorphology-assessment.htm