Further clinical delineation of microcephaly-capillary malformation syndrome

Julianne K Postma; Jessica L Zambonin; Ebtissal Khouj; Suad Alyamani; John M Graham Jr; Fowzan S Alkuraya; Stephen Kundell; Melissa T Carter

doi:10.1002/ajmg.a.62936

Further clinical delineation of microcephaly-capillary malformation syndrome

Am J Med Genet A. 2022 Nov;188(11):3350-3357. doi: 10.1002/ajmg.a.62936. Epub 2022 Aug 13.

Authors

Julianne K Postma¹, Jessica L Zambonin², Ebtissal Khouj³, Suad Alyamani⁴, John M Graham Jr⁵, Fowzan S Alkuraya³, Stephen Kundell⁶, Melissa T Carter¹

Affiliations

¹ Department of Medical Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
² Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
³ Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁴ Neuroscience Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁵ Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
⁶ Thousand Oaks Pediatrics, California, USA.

PMID: 35962715
DOI: 10.1002/ajmg.a.62936

Abstract

Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to date. The clinical features typically include microcephaly, multiple cutaneous capillary malformations, seizures, neurologic impairment, and global developmental delay. Currently, there is little published information about the natural history and long-term outcomes for individuals with MIC-CAP. In this report, we provide follow up on two previously published patients and describe four new patients. The included patients highlight increased variability in the clinical spectrum and provide novel information regarding medical complications and recurrent variants.

Keywords: MIC-CAP; STAMBP; clinical spectrum; microcephaly-capillary malformation syndrome; recurrent variants.

Publication types

Case Reports

MeSH terms

Capillaries / abnormalities
Humans
Microcephaly* / diagnosis
Microcephaly* / genetics
Nervous System Malformations*
Vascular Malformations* / diagnosis
Vascular Malformations* / genetics

Supplementary concepts

Capillary Malformations, Congenital, 1