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Department of Health and Human Services

Dysmorphology assessment for neonates

Key messages

  • A dysmorphology assessment requires a thorough and detailed physical examination.
  • Ancillary investigations may be useful
  • Chromosome and genetic tests may be warranted in certain circumstances
  • Overcome any reluctance to discuss your assessment with the family but make sure you use sensitive language.

Page contents: History checklist | Examination checklist | Investigations - when to do what? | Communication strategies with parents | More information

A dysmorphology assessment of a newborn focuses on aspects of history, physical examination and investigations that may lead to a syndrome diagnosis.

This assessment should be carried out on a child with any of the following:

Checklists below will assist with:

For many doctors, discussing issues relating to syndrome diagnosis and dysmorphism with parents can be difficult, and some suggestions are outlined below.

History checklist

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

Examination checklist

Growth

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

Ectodermal features

Examine the skin and hair:

Skull

Examine the skull:

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:

Midfacial region

When examining the midfacial region assess:

Oral region

When examining the oral region of the face note:

Hands and feet

Examine hands and feet carefully:

Joints and skeleton

Examine joints and skeleton for:

Genitalia and anus

Check the following:

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.

Investigations - when to do what?

Tests examinations to use in the syndrome work-up include:

Genetic skeletal survey

A genetic skeletal survey includes:

In a neonate, it may be sufficient to obtain a ‘baby-gram’ (X-ray of the baby) and a separate X ray of the hands and feet.

Pathology

Chromosome abnormalities are more likely when there are abnormalities of growth, most commonly growth restriction and microcephaly, in association with dysmorphic features and congenital abnormalities.

Chromosome analysis issues to note
Flourescence in situ hybridation (FISH)
Fragile X testing

Fragile x testing is rarely indicated in the neonatal period in the absence of a family history.

Single gene tests

Single gene tests may be indicated, depending on the syndrome being considered. Such tests usually require liaison with the clinical geneticist.

Biochemical tests

Biochemical tests such as 7-dehdrocholesterol assays if considering Smith-Lemli-Opitz as a diagnosis.

Communication strategies with parents

It can be awkward to raise a concern that a child is dysmorphic. However, it is important to communicate concerns to the family in order to assist them to understand the reasons behind investigations, examinations of other family members, and referrals to genetics.

Remember:

More information

Consumer

References