Hydranencephaly in CENPJ-related Seckel syndrome

Arterial stroke in a child with Seckel syndrome with a pattern of non‐moyamoya vasculopathy

“…Seckel syndrome (SS) is a rare, autosomal recessive, heterogeneous type of primordial dwarfism first described by Seckel in 1960 1 . It almost affects one out of 10,000 children characterized by severe intrauterine and postnatal growth retardation, dysmorphic features, microcephaly, mental retardation, and beak‐like protrusion of the midface (bird headed) 2,3 . The above diagnostic criteria were defined by Majewski and Goeke after reviewing 60 patients with similar manifestations 4 .…”

“… 1 It almost affects one out of 10,000 children characterized by severe intrauterine and postnatal growth retardation, dysmorphic features, microcephaly, mental retardation, and beak‐like protrusion of the midface (bird headed). 2 , 3 The above diagnostic criteria were defined by Majewski and Goeke after reviewing 60 patients with similar manifestations. 4 In addition, skeletal, cardiovascular, hematologic, endocrine, gastrointestinal, and central nervous system abnormalities are well recognized in patients with SS.…”