Expansion of the phenotypic spectrum of SCM1A nonsense variants: a patient with cerebellar atrophy and review of the literature.


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Türkyılmaz A., Türkdoğan D. , Görmez Z., Ekinci G.

Clinical dysmorphology, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1097/mcd.0000000000000326
  • Dergi Adı: Clinical dysmorphology

Özet

The proband, aged 7 years, born at 39weeks and 3150 g birth weight as the second child of nonconsanguineous Turkish parents with an unremarkable family history. The antenatal and perinatal period was uneventful. She presented with multiple focal motor seizures with secondary generalization evolving to status epilepticus in the same day at 8months of age. The family noticed neurodevelopmental delay at 5 months of age characterized by lack of head control, voluntary hand functions and eye tracking. She gained head control and mild social smile at 7 months of age. Clusters of intractable seizures caused regression of previously achieved milestones. Neurological examination currently shows severely delayed motor functions with diffuse severe hypotonia, lack of sitting without assistance, voluntary hand functions, visual contact, social jests or vocalization. Physical examination demonstrates a height of 107 cm (−2.76 SD), weight of 15 kg (−2.86 SD) and head circumference of 48 cm (−2.78 SD), scoliosis with the following dysmorphic features; coarse facies, long and prominent eyelashes, anteverted nares, widely spaced teeth, hirsutismus on forehead and neck, tapering fingers, proximally placed thumbs and hammer toes, but no congenital malformations (Fig. 1).