Campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


Total: 11

                       


(per page)
PMID (PMCID)
30662210
 OTHER
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.
Basani L, Aepala R, Macha N.
Indian J Radiol Imaging. 2018;28(4):456-459.
Campomelic dysplasia (CD) is a rare form of skeletal dysplasia (incidence 1:200,000 births) which is associated with characteristic phenotypes including bowing of the limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia.
29542186
 MIXED_SAMPLE
Familial campomelic dysplasia due to maternal germinal mosaicism.
Higeta D, Yamaguchi R, Takagi T, Nishimura G, Sameshima K, Saito K, Minegishi T.
Congenit Anom (Kyoto). 2018;58(6):194-197.
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations.
30012910
 FEMALE Child
Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.
Morozumi K, Ainoya K, Takemoto J, Sakai K.
Tohoku J Exp Med. 2018;245(3):187-191.
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia.
24821304
 FEMALE Infant
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C.
Eur J Med Genet. 2014;57(7):315-8.
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by Pierre Robin sequence (PRS), shortened and bowed long bones, airway instability, and the potential for sex reversal.
21614988
 MIXED_SAMPLE Infant, Newborn
A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
Stoeva R, Grozdanova L, Scherer G, Krasteva M, Bausch E, Krastev T, Linev A, Stefanova M.
Genet Couns. 2011;22(1):49-53.
Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation.
12599182
 FEMALE Adult
Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling.
Pryde PG, Zelop C, Pauli RM.
Am J Med Genet A. 2003;117A(3):203-6.
KD is bent-bone skeletal dysplasia that, in contrast to campomelic dysplasia, involves principally the femora with relative sparing of the remainder of the skeleton.
10998449
 MIXED_SAMPLE Infant, Newborn
Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.
Courtens W, De laet C, Ziereisen F, Vamos E, Mortier G.
Ann Genet. 2000;43(2):81-8.
The radiographic features were not consistent with the diagnosis of campomelic dysplasia, kyphomelic dysplasia or other skeletal dysplasias characterized by bowing and shortening of the long bones.
8650130
 MIXED_SAMPLE Infant, Newborn
Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.
Norgard M, Yankowitz J, Rhead W, Kanis AB, Hall BD.
Prenat Diagn. 1996;16(2):173-9.
Hydrolethalus can also be difficult to distinguish from certain skeletal dysplasias such as the short rib-polydactyly syndromes and campomelic dysplasia.
8749940
 FEMALE
3-Year-old phenotypic female with campomelic dysplasia and bilateral gonadoblastoma.
Hong JR, Barber M, Scott CI, Guttenberg M, Wolfson PJ.
J Pediatr Surg. 1995;30(12):1735-7.
Phenotypic females with campomelic dysplasia should be karyotyped once the skeletal dysplasia is recognized.
7933045
 FEMALE Adult
Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis.
Sanders RC, Greyson-Fleg RT, Hogge WA, Blakemore KJ, McGowan KD, Isbister S.
J Ultrasound Med. 1994;13(9):691-700.
The classic features of osteogenesis imperfecta and campomelic dysplasia typically are so specific that these two forms of skeletal dysplasia are among the few that can be diagnosed in the second trimester of pregnancy.
8482284
 FEMALE Infant, Newborn
Campomelic dysplasia--an underdiagnosed condition?
Normann EK, Pedersen JC, Stiris G, van der Hagen CB.
Eur J Pediatr. 1993;152(4):331-3.
Campomelic dysplasia (CD) is a rare skeletal dysplasia.