Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome

• Published in: American journal of medical genetics 1997-03, Vol.69 (2), p.138-151
• Main Authors: García-Cruz, D., Sánchez-Corona, J., Nazará, Z., García-Cruz, M. O., Figuera, L. E., Castañeda, V., Cantú, J. M.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - genetics; Adolescent; autosomal recessive; Biological and medical sciences; cardiomegaly; Cardiomegaly - congenital; Cardiomegaly - diagnosis; Cardiomegaly - genetics; Child; Child, Preschool; Complex syndromes; congenital; Female; Humans; hypertrichosis; Hypertrichosis - congenital; Hypertrichosis - diagnosis; Hypertrichosis - genetics; macrosomia; Male; Medical genetics; Medical sciences; osteochondrodysplasia; Osteochondrodysplasias - congenital; Osteochondrodysplasias - diagnosis; Osteochondrodysplasias - diagnostic imaging; Osteochondrodysplasias - genetics; pericarditis; Phenotype; Radiography; Syndrome; X-Rays
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19970317)69:2<138::AID-AJMG5>3.0.CO;2-L

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. Am. J. Med. Genet. 69:138–151, 1997. © 1997 Wiley‐Liss, Inc.