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

André Mégarbané (1, 2) , Sayeeda Hana (3) , Stephany El‐hayek (3) , Alicia Gambarini (2) , Mahmoud Taleb Al‐ali (3) , Valérie Delague (4)

1 Human Genetics Department [LAU Gilbert and Rose-Marie Chagoury School of Medicine]
2 Institut Jérôme Lejeune
3 CAGS - Centre for Arab Genomic Studies
4 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

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.

Mots clés: consanguinity; dysmorphology; intellectual disability; malformation

Domaines: Génétique; Médecine humaine et pathologie

André Mégarbané, Sayeeda Hana, Stephany El‐hayek, Alicia Gambarini, Mahmoud Taleb Al‐ali, et al.. 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. American Journal of Medical Genetics Part A, 2020, 182 (8), pp.1865-1872. ⟨10.1002/ajmg.a.61730⟩. ⟨hal-03147656⟩