Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.
The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome.
Garcia-Cruz
D
D
División de Genetica, Centro de Investigación Biomédica de Occidente, Jalisco, Mexico.
Sánchez-Corona
J
J
Nazará
Z
Z
Garcia-Crúz
M O
MO
Figuera
L E
LE
Castañeda
V
V
Cantú
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D006332:Cardiomegaly / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014965:X-Rays