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 initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell‐shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo‐bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS‐based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, and rarely renal cysts. We conclude on the basis of mostly sporadic (“chance isolated”) occurrence, several instances o parental consanguinity, and familial occurrence that the CS is probably owing to the homozygous state of an autosomal recessive gene. Affected males may have normal genitalia with desceding testes or female genitalia with streak‐like gonadal rudiments, or any stage of male pseudohermaphroditism between these two extremes. Whether the H‐Y antigen deficiency observed in “sex reversed” CS males is a primary or secondary defect remains unsettled. This not uncommon syndrome is usually fatal within days, weeks, or months. However, several young survivors are known with initially normal neurologic status and psychomotor development. Our patient 17 is 17 years old, has an estimaged IQ of 45, and a hearing loss, which may reflect numerous middle‐ear infections and malformations of the middle ear.