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. 2019 Sep 5;28(1):132–136. doi: 10.1038/s41431-019-0498-y
No.
Yes.
Therapy (please describe) Currently there are no specific causal therapies, but potentially life-saving surgical treatment and ophthalmologic and neurodevelopmental interventions must be offered.
Prognosis (please describe) The prognosis is very variable. A long-term follow-up has only been described in two adults presenting with Stromme syndrome, both having survived early surgery of intestinal atresia. They are living independently [2, 6]. On the severe end, adverse outcomes including fetal and neonatal lethality must be considered. The prognosis is largely dependent also on the presence of the type of malformations in the individual patient, particularly also the associated brain malformations. Cognitive impairment may be associated in varying degrees ranging from learning difficulties to intellectual disability.
Management (please describe) The diagnosis of Stromme syndrome or a CENPF-related disorder has important implications for management. Intestinal surgery is life-saving, if successful, and knowledge of the diagnosis should prompt ophthalmological and neurodevelopmental evaluation in an affected child and early interventions in order to improve the long-term individual outcome. Early prenatal diagnosis and/or preimplantation genetic diagnosis become possible in the family.