WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Split‐hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb malformation typically limited to a defect of the central rays of the autopod, presenting as a median cleft of hands and feet. It can be associated with long bone deficiency or included in more complex syndromes. Among the numerous genetic causes, WNT10B homozygous variants have been recently identified in consanguineous families, but remain still rarely described (SHFM6; MIM225300). We report on three novel SHFM families harboring WNT10B variants and review the literature, allowing us to highlight some clinical findings. The feet are more severely affected than the hands and there is a frequent asymmetry without obvious side‐bias. Syndactyly of third–fourth fingers was a frequent finding (62%). Polydactyly, which was classically described in SHFM6, was only present in 27% of patients. No genotype–phenotype correlation is delineated but heterozygous individuals might have mild features of SHFM, suggesting a dose‐effect of the WNT10B loss‐of‐function.     

Nonepileptic seizures during apparent sleep

We report 12 patients with nonepileptic seizures(NESs) documented with video-electroencephalographic monitoring during apparent sleep. There were 7 females and 5 males, ages 11 to 67 years(mean, 33 yr). In all patients there was a well-organized posterior α rhythm present immediately before onset of clinical changes despite the appearance of sleep. Patients later “confirmed” that these attacks occured during sleep. Features of these episodes were typical of NESs and none were associated with ictal or postictal electroencephalographic changes other than muscle and movement artifact. Provocative testing with suggestion confirmed the nonepileptic nature of these episodes in 9 patients. Three patients had epileptiform discharges during prolonged interictal recordings and 1 had a documented complex partial seizure. Our findings indicate that reports of seizures during sleep are not uncommon among patients with NESs.