von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.
We report a 16-month-old patient with meningoencephalocele, absence of the radii, ambiguous genitalia, and transient neonatal thrombocytopenia. The phenotype strongly suggests the von Voss-Cherstvoy syndrome. Thrombocytopenia was present during the first 2 weeks of life and not found in subsequent determinations. This observation suggests that thrombocytopenia is a transient part of the syndrome. Among the patients reported so far our case appears to represent the mildest phenotype. Despite the neonatal complications and meningoencephalocele, the patient currently has normal psychomotor development.
Brunetti-Pierri
Nicola
N
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Mendoza-Londono
Roberto
R
Shah
Maulik R
MR
Karaviti
Lefkothea
L
Lee
Brendan
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002657:Child Development; D004677:Encephalocele / Q000235:genetics*; D005121:Extremities / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011597:Psychomotor Performance / Q000502:physiology*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*