Paediatric Genetic Syndromes and Associations

73 Paediatric Genetic Syndromes and Associations

73.1 Definitions

A syndrome is a group of birth defects with a single (usually genetic) cause, for example, Down’s syndrome (trisomy 21).

In a sequence (Pierre Robin) the clinical features are due to a single anatomical abnormality—that is, it is the mandibular hypoplasia that causes micrognathia, tongue base prolapse and palatal defects.

An association is a group of defects that commonly occur together, without a specific known cause, for example, VATER, CHARGE (see later).

73.2 Syndromes

Down’s syndrome.

Turner’s syndrome.

Treacher Collins syndrome.

Goldenhar’s syndrome.

Crouzon’s syndrome.

Apert’s syndrome.

22Q11 deletion syndrome.

Syndromes causing congenital deafness.

73.3 Sequences and Associations

Pierre Robin sequence.

VATER association.

CHARGE association.

73.4 Down’s Syndrome

Down’s syndrome (trisomy 21) is a genetic disorder almost always associated with an extra partial or complete chromosome 21. Affected children have a variety of features, including somewhat flattened facies, a short neck, a protruding tongue, upward-slanting palpebral fissures (eyelids), small ears, hypotonia (floppy baby), short broad hands and short stature. They are prone to a variety of medical pathologies (imageTable 73.1) and a number of ENT pathologies (imageTable 73.2).

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Mar 31, 2020 | Posted by in OPHTHALMOLOGY | Comments Off on Paediatric Genetic Syndromes and Associations

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