Cole-Carpenter Syndrome
[…] of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Crumpled long bones 0006367 Delayed eruption of teeth Delayed eruption Delayed teeth eruption Delayed[rarediseases.info.nih.gov]
[…] multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus[rarediseases.info.nih.gov]
Showing of 35 80%-99% of people have these symptoms Abnormal form of the vertebral bodies 0003312 Abnormality of the metaphysis Abnormality of the wide portion of a long bone[rarediseases.info.nih.gov]
Schwartz-Jampel Syndrome
Abstract We report two fetuses with congenital bowing of the long bones.[ncbi.nlm.nih.gov]
Our patient, diagnosed at 4 weeks of life, lacks the major skeletal anomalies, such as pectus carinatum, congenital hip dysplasia, and bowing of the long bones usually associated[ncbi.nlm.nih.gov]
The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.[ncbi.nlm.nih.gov]
Parastremmatic Dwarfism
Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral[malacards.org]
Imaging Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in[medical-dictionary.thefreedictionary.com]
[…] of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture.EtiologyThe syndrome is caused by a heterozygousmutation in the TRPV4 gene[malacards.org]
Osteogenesis Imperfecta Type 2
The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies.[ncbi.nlm.nih.gov]
Syndromes of congenital bowing of the long bones. Pediatr Radiol 1978 ; 7 : 40 –8. Hall BD, Spranger JW. Familial congenital bowing with short bones.[jmg.bmj.com]
Radiologically, presence of generalized osteoporosis, thin cortices and bowing of the long bones, multiple cystic areas, codfish vertebra, and wormian bones are characteristic[kenkyugroup.org]
Talipes Cavus
[…] of femur 754.43 Congenital bowing of tibia and fibula 754.44 Congenital bowing of unspecified long bones of leg 754.50 Talipes varus 754.51 Talipes equinovarus 754.52 Metatarsus[healthprovidersdata.com]
754.35 Congenital dislocation of one hip with subluxation of other hip 754.40 Genu recurvatum 754.41 Congenital dislocation of knee (with genu recurvatum) 754.42 Congenital bowing[healthprovidersdata.com]
Stuve-Wiedemann Syndrome
We report two fetuses with congenital bowing of the long bones.[ncbi.nlm.nih.gov]
The Stuve-Wiedemann syndrome (SWS) is a congenital bone dysplasia characterized by camptodactyly with ulnar deviation and congenital bowing of the long bones.[ncbi.nlm.nih.gov]
Wiedemann: Congenital Bowing of the long bones in two sisters. (Letter). Lancet, 1971, 2:495 J. Spranger, P. Maroteaux: Stüve-Wiedemann syndrome.[whonamedit.com]
Bruck Syndrome
The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures.[ncbi.nlm.nih.gov]
[…] of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Platyspondyly Flattened vertebrae 0000926 Percent of people who have these symptoms is not available[rarediseases.info.nih.gov]
Clubfeet Clubfoot [ more ] 0001762 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 5%-29% of people have these symptoms Bowing[rarediseases.info.nih.gov]
Weismann Netter Syndrome
The authors' experience and review of 37 cases reported since its original description in 1954 has revealed a definite association of diaphyseal bowing of other long bones[ajronline.org]
It primarily affects long bones and cartilage. Limb shortening, bowing of the long bones, and/or short stature may occur.[accessanesthesiology.mhmedical.com]
Sometimes the long bone of the thigh (femur) is bowed.[rarediseases.org]
Mesomelic Dysplasia Type Savarirayan
Showing of 23 80%-99% of people have these symptoms Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Broad tibial metaphyses Broad wide portion[rarediseases.info.nih.gov]
Gabriele Tonni, Mario Lituania and Lucia Rosignoli, Craniosynostosis with wormian bone, bowing of the long bones, unilateral short femur, and focal fibula deficiency: A prenatal[doi.org]
The diagnosis of hypophosphataemicrickets is unacceptable as bowing of the long bones wasabsent in our patient, the values of serum phosphatewere slightly increased and the[dokumen.tips]
Skeletal Dysplasia
Platyspondyly with cervical kyphosis, but no coronal clefts, and bowing of the long bones are distinctive radiographic findings.[ncbi.nlm.nih.gov]
These diseases are characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly, and striking irregularities of endochondral ossification[ncbi.nlm.nih.gov]
Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies.[ncbi.nlm.nih.gov]