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Facial features in children with the 22q11 deletion syndrome.

Artikel i vetenskaplig tidskrift
Författare Sólveig Oskarsdóttir
Eva Holmberg
Anders Fasth
Kerstin Strömland
Publicerad i Acta paediatrica (Oslo, Norway : 1992)
Volym 97
Nummer/häfte 8
Sidor 1113-7
ISSN 0803-5253
Publiceringsår 2008
Publicerad vid Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik
Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Institutionen för kliniska vetenskaper
Sidor 1113-7
Språk en
Länkar dx.doi.org/10.1111/j.1651-2227.2008...
Ämnesord Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, genetics, Ear, External, abnormalities, Eye, anatomy & histology, Face, Facial Expression, Female, Humans, Infant, Male, Nose, anatomy & histology, Phenotype
Ämneskategorier Pediatrik

Sammanfattning

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.

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