The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971

We report 17 cases of the campomelic syndrome (CS) and a follow‐up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The init...

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Veröffentlicht in:	American journal of medical genetics 1983-05, Vol.15 (1), p.3-28
Hauptverfasser:	Houston, C. Stuart, Opitz, John M., Spranger, Jürgen W., Macpherson, Roderick I., Reed, Martin H., Gilbert, Enid F., Herrmann, Jürgen, Schinzel, Albert
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Abnormalities, Multiple - physiopathology Adolescent autosomal recessive inheritance Bone and Bones - abnormalities campomelic syndrome Cartilage - abnormalities congenital bowing of leg bones Female Genitalia - abnormalities H-Y Antigen Humans Infant, Newborn Male male sex limitation multiple congenital anomalies (MCA) syndrome Pierre Robin anomaly pleiotrophy Respiratory Distress Syndrome, Newborn - genetics Respiratory System - physiopathology sex reversal skeletal dysplasia Syndrome talipes equinovarus
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