Craniosynostosis

Searle, C.W.A.; Jewell, Rosalyn; Kraft, Jeannette; Stoebe, Petra; Chumas, Paul; Titheradge, Hannah; Kraus, Alison; Genčík, Martin; Hobson, Emma

doi:10.1097/mcd.0000000000000021

Cited by 11 publications

(1 citation statement)

References 7 publications

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“…Up to the best of our knowledge, scaphocephaly due to sagittal synostosis and secondary copper-beaten appearance, that commonly indicates the increase of intracranial pressure (seen in Patient 5), as well as prominent angulation of the lumbar-sacral junction (seen in eight of our patients) were only reported once by Searle et al (2014).…”

Section: Discussionmentioning

confidence: 61%

CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum

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Elhossini

Abdel‐Ghafar

et al. 2023

American J of Med Genetics Pt A

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Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho-scoliosis, platyspondyly, epiphyseal dysplasia, flared metaphysis, in addition to minor cardiac lesions and hearing loss. Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spondyloepiphyseal changes that were progressive with age in addition to bifid distal ends of humeri which can be considered a diagnostic key in patients with CHST3 variants. They also shared peculiar facies with broad forehead, broad nasal tip, long philtrum and short neck. Rare unusual associated findings included microdontia, teeth spacing, delayed eruption, prominent angulation of the lumbar-sacral junction and atrial septal defect. Mutational analysis revealed 10 different homozygous CHST3 (NM_004273.5) variants including 7 missense, two frameshift and one nonsense variant. Of them, the c.384_391dup (p.Pro131Argfs*88) was recurrent in two families. Eight of these variants were not described before. Our study presents the largest series of patients with CHST3-related skeletal dysplasia from the same ethnic group. Furthermore, it reinforces that lethal cardiac involvement is a critical clinical finding of the disorder. Therefore, we believe that our study expands the phenotypic and mutational spectrum, and also highlights the importance of performing echocardiography in patients harboring CHST3 variants.

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Section: Discussionmentioning

confidence: 61%