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Facial features in children with the 22q11 deletion syndrome
Author(s) -
Óskarsdóttir S,
Holmberg E,
Fasth A,
Strömland K
Publication year - 2008
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2008.00858.x
Subject(s) - medicine , deletion syndrome , nose , differential diagnosis , dermatology , pediatrics , audiology , pathology , surgery , genetics , phenotype , gene , biology
Aim: To find a pattern of the most typical facial features in children with the 22q11 deletion syndrome, which could serve as an aid in identifying patients with the syndrome. Methods: In 80 children and adolescents with the 22q11 deletion syndrome, three investigators evaluated the facial features separately using frontal and profile photographs. A patient was considered to have a given feature if at least two of the evaluators agreed. Results: The most common facial features found in at least 50% of the patients were malar flatness, fullness of eyelids (hooded eyelids), broad nasal bridge/tubular nose, broad/round nasal tip, round ears, thick/overfolded helix and slightly low‐set ears. These were also the most common features when all agreed, although a considerable variation in the assessment by the three evaluators was observed. Conclusions: The 22q11 deletion syndrome is a differential diagnosis in children with a variety of symptoms and signs including congenital malformations, developmental delay and speech abnormalities. Almost all children with the syndrome show a characteristic pattern of minor facial variants, which can be difficult to recognise, unless specifically looked for. A systematic evaluation of facial features might help in identifying children with the syndrome.