Abstract
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.
Keywords:
consanguinity; dysmorphology; intellectual disability; malformation.
© 2020 Wiley Periodicals LLC.
MeSH terms
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Child
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Comparative Genomic Hybridization
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Consanguinity
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DNA Copy Number Variations / genetics
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Developmental Disabilities / complications
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Developmental Disabilities / genetics*
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Developmental Disabilities / pathology
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Diagnosis, Differential
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Dwarfism / complications
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Dwarfism / genetics
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Dwarfism / pathology
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Exome / genetics
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Exome Sequencing
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Face / abnormalities
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Female
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Hearing Loss / complications
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Hearing Loss / genetics
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Hearing Loss / pathology
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Humans
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Intellectual Disability / complications
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Intellectual Disability / genetics*
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Intellectual Disability / pathology
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Language Development Disorders / complications
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Language Development Disorders / genetics
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Language Development Disorders / pathology
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Laryngostenosis / complications
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Laryngostenosis / genetics*
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Laryngostenosis / pathology
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Male
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Nail Diseases / complications
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Nail Diseases / congenital*
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Nail Diseases / genetics
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Nail Diseases / pathology
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Pedigree
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Phenotype
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Siblings
Supplementary concepts
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Nail dysplasia, isolated congenital