Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
Child
Comparative Genomic Hybridization
Consanguinity
DNA Copy Number Variations
/ genetics
Developmental Disabilities
/ complications
Diagnosis, Differential
Dwarfism
/ complications
Exome
/ genetics
Face
/ abnormalities
Female
Hearing Loss
/ complications
Humans
Intellectual Disability
/ complications
Language Development Disorders
/ complications
Laryngostenosis
/ complications
Male
Nail Diseases
/ complications
Pedigree
Phenotype
Siblings
Exome Sequencing
consanguinity
dysmorphology
intellectual disability
malformation
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:
08 2020
08 2020
Historique:
received:
22
03
2020
revised:
20
05
2020
accepted:
28
05
2020
pubmed:
4
7
2020
medline:
4
6
2021
entrez:
4
7
2020
Statut:
ppublish
Résumé
We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability, absent speech, hearing impairment, short stature, subglottic stenosis, increased length of the palpebral fissures, onychodysplasia of index fingers, scoliosis, genu valgum, and malpositioned toes. Two other individuals from the extended family with similar clinical features are also described. Array-CGH did not reveal any pathological copy number variation. Exome sequencing failed to find any causal variants. Differential diagnoses and the possibility that we might be reporting a hitherto unknown syndrome are discussed.
Identifiants
pubmed: 32618096
doi: 10.1002/ajmg.a.61730
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1865-1872Informations de copyright
© 2020 Wiley Periodicals LLC.
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