Multiple coagulation defects and the Cohen syndrome

T. L. Schlichtemeier, G. E. Tomlinson, B. A. Kamen, L. J. Waber, G. N. Wilson

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

A 13‐year‐old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17‐year‐old sister had a mental retardation‐multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down‐turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid aneurysm, tortuous descending aorta, and deep venous thrombosis suffered by the male sibling adds the Cohen syndrome to genetic vasculopathies that may be associated with stroke.

Original languageEnglish (US)
Pages (from-to)212-216
Number of pages5
JournalClinical Genetics
Volume45
Issue number4
DOIs
StatePublished - Apr 1994

    Fingerprint

Keywords

  • Cohen symdrome
  • MCA/MR syndrome
  • hypercoagulability
  • stroke

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Schlichtemeier, T. L., Tomlinson, G. E., Kamen, B. A., Waber, L. J., & Wilson, G. N. (1994). Multiple coagulation defects and the Cohen syndrome. Clinical Genetics, 45(4), 212-216. https://doi.org/10.1111/j.1399-0004.1994.tb04026.x