Camptomelic Dwarfism

Hoefnagel, D.; Wurster, Doris H.; Carey, Donald E.; Harris, G.J.; Pilliod, J.

doi:10.1016/s0140-6736(72)91246-9

Cited by 15 publications

(3 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis.Following the description by Maroteaux et al [32] and Bianchine et al [6] of campomelic dysplasia, many cases have been reported of this usually lethal entity, in which multiple osseous defects (bending of tubular bones is the most striking) and malformations of other organs are associated [24,31,40,44,46,48,49].The genesis of this condition remains uncertain and both an exogenous factor acting in the mother in Fig. 1.…”

mentioning

confidence: 98%

See 1 more Smart Citation

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories

Pazzaglia

Beluffi

1987

Pediatr Radiol

View full text Add to dashboard Cite

Abstract. The study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis.Following the description by Maroteaux et al. [32] and Bianchine et al. [6] of campomelic dysplasia, many cases have been reported of this usually lethal entity, in which multiple osseous defects (bending of tubular bones is the most striking) and malformations of other organs are associated [24,31,40,44,46,48,49].The genesis of this condition remains uncertain and both an exogenous factor acting in the mother in Fig. 1. The chest is bell-shaped, with slender, horizontal ribs and hypoplastic scapulae Fig.2. Bowing of the tubular bones of lower limbs; hypoplastic pelvic girdle bones and dislocation of the hips Fig.3. X-ray of the tibia after dissection: angulation of the bone between the proximal ¾ and the distal %. On the concave side the cortex has been replaced by dense bone in which the rayed pattern is evident. Metaphyseal trabeculae are normal

show abstract

mentioning

confidence: 98%

“…Following the description by Maroteaux et al [32] and Bianchine et al [6] of campomelic dysplasia, many cases have been reported of this usually lethal entity, in which multiple osseous defects (bending of tubular bones is the most striking) and malformations of other organs are associated [24,31,40,44,46,48,49].…”

mentioning

confidence: 99%

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories

Pazzaglia

Beluffi

1987

Pediatr Radiol

View full text Add to dashboard Cite

show abstract

“…In males with camptomelic dwarfism, the phenotypic, cytogenetic and gonadal sex have been in accord. In one female infant with the syndrome, who had a normal XX-complement, the histology of the gonads was normal (Hoefnagel et al 1972). Gardner et al (1970) have reported a female infant with multiple anomalies, which in retrospect clearly constitute the camptomelic syndrome.…”

Section: Discussionmentioning

confidence: 97%

Camptomelic dwarfism associated with XY‐gonadal dysgenesis and chromosome anomalies

Hoefnagel¹,

Wurster‐Hill

Dupree

et al. 1978

Clinical Genetics

Self Cite

View full text Add to dashboard Cite

show abstract

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

et al. 1983

View full text Add to dashboard Cite

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, renal hypoplasia, and rarely renal cysts.

show abstract

Camptomelic Dwarfism

Cited by 15 publications

References 8 publications

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories

Camptomelic dwarfism associated with XY‐gonadal dysgenesis and chromosome anomalies

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

Contact Info

Product

Resources

About