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. 2022 Dec 1;14(4):349–357. doi: 10.3390/hematolrep14040049

Table 1.

Clinical Findings in Patients with Reported Medich Syndrome. + OCP; oral contraceptives; ++ CHD: congenital heart disease; +++ EGA; estimated gestational age.

Patient Sex Ethnicity Age of Initial Thrombocytopenia Age at Diagnosis Bleeding Symptoms Therapies Other Findings Ref.
1 Female Hispanic 2 weeks 8 years Bruising
Mucosal bleeding
IVIG
Steroids
Anti-CD20
Immunosuppressants
Platelet transfusion
Splenectomy
Antifibrinolytics
OCP+
Duplication of alpha
    globin gene in one
    allele
Missense in the SLFN14
    gene, c.652A > G
2 Male African American Birth 6 years Bruising
Oral mucosal bleeding
Platelet transfusion
Antifibrinolytics
Maternal
    thrombocytopenia
3 Female Caucasian 1 year 19 years Bruising
Bleeding with piercings
    and dental work
Menorrhagia
Platelet transfusion
Splenectomy
OCP+
Antifibrinolytics
None [14]
4 Male Caucasian Birth 2 years Platelet transfusion CHD++
Craniosynostosis
4Ydel (11q23.3)
[15]
5 Female Caucasian Birth 18 months Subdural hematoma Platelet transfusion EGA+++ 29 weeks
    one of fraternal
    triplets
[15]