Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Arthritis
/ diagnostic imaging
Child
Child, Preschool
Cleft Lip
/ diagnostic imaging
Cleft Palate
/ diagnostic imaging
Connective Tissue Diseases
/ diagnostic imaging
Female
Hearing Loss, Sensorineural
/ diagnostic imaging
Humans
Infant
Male
Pierre Robin Syndrome
/ diagnostic imaging
Retinal Detachment
/ diagnostic imaging
Retrospective Studies
Robin sequence
Stickler syndrome
cleft palate
mortality
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
revised:
26
06
2021
received:
02
06
2021
accepted:
03
07
2021
pubmed:
23
7
2021
medline:
3
3
2022
entrez:
22
7
2021
Statut:
ppublish
Résumé
Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.
Identifiants
pubmed: 34291880
doi: 10.1002/ajmg.a.62430
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
3694-3700Subventions
Organisme : NIH HHS
ID : K 23 HL 135346
Pays : United States
Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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