camptomelic dysplasia (cmd) is a rare autosomal dominant congenital dwarfism characterized by shortness and bowing of long bones (camptomelia) and other severe skeletal and extra skeletal malformations. cmd is generally considered to be lethal and the majority of cases die in the neonatal period due to respiratory insufficiency. we hereunder report a term male neonate with characteristic clinic...

Bowing of long bones may be secondary to several aetiologies. Among the causes for bowing of long bones include congenital and acquired form of rickets, skeletal dysplasia, osteogenesis imperfecta and renal tubular acidosis (RTA).

Camptomelic dwarfism or dysplas1a is a rare syndrome in which· short stature is associated with angulation and bowing of the lower limb Long bones, hypoplasia of the facial bones and scapula and various other skeletal and respiratory and nervous system. A 9 day old girl with this syndrome was admitted in our peiatric Department, Loghman Hospital medical center because of Dwarfism and hypotonia....

Congenital bowing of many long bones in a single individual is comparatively rare and Angle (1954), in a review of the English literature, found only eight reported cases. On the other hand, bowing of individual long bones occurs with greater frequency, the same author reviewing 12 cases of anterior and 14 cases of posterior tibial angulation and three cases with bilateral involvement of the fe...

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectivel...

We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features suggestive of kyphomelic dysplasia. The fetuses had severe bowing of the long bones, short, flared ribs, platyspondyly, metaphyseal flaring, skin dimpling, with normal external genitalia and karyotypes and a normal pregnancy. They were born to a mother with features of...

skeletal tuberculosis is an unusual disease involving bone and joints and it may have different manifestations. this report introduces a 25-year-old woman suffering from chronic knee pain without any response to conservative treatments for one year. x-ray was normal but ct-scan and mri indicated a small lesion in medial condyle of the femur. the patient underwent percutaneous ct-guided biopsy. ...

Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally...