Skip to main content Accessibility help
×
Home
Hostname: page-component-6c8bd87754-trcsx Total loading time: 0.257 Render date: 2022-01-20T09:44:51.468Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

5 - Dysmorphic features

Published online by Cambridge University Press:  15 February 2010

Amanda Ogilvy-Stuart
Affiliation:
University of Cambridge
Paula Midgley
Affiliation:
University of Edinburgh
Get access

Summary

Clinical presentation

Dysmorphic features may point to an underlying endocrine abnormality.

Approach to the problem

Examination for

  • Midline defects, e.g. central cleft palate and/or lip, hypotelorism or hypertelorism.

  • Features of recognizable syndrome, e.g. Beckwith–Wiedemann syndrome (macroglossia, ear lobe creases, exomphalos), Smith–Lemli–Opitz (microcephaly, second- and third-toe syndactyly, see below), Robinow syndrome.

Other physical features to look for

  • Symmetrical growth retardation.

  • Micropenis (hypopituitarism, dysmorphic syndrome, see below).

  • Large-for-gestational-age, exomphalos, ear lobe creases (Beckwith–Wiedemann syndrome).

Other symptoms/signs

  • Hypoglycaemia (hormone insufficiency: e.g. cortisol, growth hormone (GH); hormone excess: i.e. insulin; metabolic abnormality).

  • Hypothermia (hypopituitarism; sepsis, which can be secondary to an underlying metabolic problem).

  • Prolonged jaundice (hypopituitarism).

  • Tetany or seizures (hypocalcaemia).

History of

  • Consanguinity suggestive of an autosomal recessive problem.

  • Neonatal death suggestive of inherited disorder, e.g. metabolic disorder previously presenting as Escherichia coli septicaemia.

Facial appearance of parents (i.e. facial features may be normal for the family).

Differential diagnosis

  • Underlying genetic defect

  • Hypopituitarism with or without septo-optic dysplasia (SOD), optic nerve hypoplasia (ONH)

  • Hypoadrenalism

  • Hypocalcaemia (hypoparathyroidism, e.g. DiGeorge syndrome)

  • Metabolic disorder

Identify those with implication for:

  • urgent management (Beckwith–Wiedemann, SOD, inborn errors of metabolism);

  • hormone balance in the newborn period (infants with Down's syndrome have an increased incidence of hypothyroidism).

Always consider hypopituitarism in the infant with undermasculinized genitalia, particularly when associated with hypoglycaemia and/or hypotension.

Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2006

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Send book to Kindle

To send this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Send book to Dropbox

To send content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Dropbox.

Available formats
×

Send book to Google Drive

To send content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about sending content to Google Drive.

Available formats
×