Kyphomelic dysplasia.

Author:

Temple I K,Thompson E M,Hall C M,Bridgeman G,Pembrey M E

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. Heterogeneity in the campomelic syndromes. Long and short bone varieties;Khajavi, A.; Lachman, R.; Rimoin, D.;Pediatr Radiol,1976

2. Familial congenital bowing with short bones;Hall, B.D.; Spranger, J.W.;Pediatr Radiol,1979

3. Brief clinical report. Skeletal dysplasia with short angulated femora (kyphomelic dysplasia);Maclean, R.N.; Prater, W.K.; Lozzio, C.B.;Am J Med Genet,1983

4. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity;Rezza, E.; lannaccone G; Lendvai, D.;Pediatr Radiol,1984

5. Kyphomelic dysplasia: further delineation of the phenotype;Viljoen, D.; Beighton, P.;Dysmorphol Clin Genet,1988

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1. Biallelic Variants inCCN2Underlie an Autosomal Recessive Kyphomelic Dysplasia;2024-04-06

2. Kyphomelic dysplasia, Pierre Robin Sequence and pregnant;International Journal of Obstetric Anesthesia;2019-08

3. Prenatal diagnosis of femoral-facial syndrome: Report of two cases;Birth Defects Research Part A: Clinical and Molecular Teratology;2013-11-19

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