Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia

Author:

Urioste Miguel,Rodríguez José I.,Bofarull Josep M.,Torán Nuria,Ferrer Carme,Villa Amelia

Publisher

Wiley

Subject

Genetics (clinical)

Reference19 articles.

1. Chondrodystrophie secondaire à un trouble de la division cellulaire;Battin;Arch Fr Pediatr,1977

2. Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?;Canki-Klain;Ann Genet (Paris),1992

3. Frontonasal dysplasia and partial trisomy 2q syndrome;Chen;Am J Med Genet [Suppl],1987

4. Difficulties in classification of the short rib-poly-dactyly syndromes;Cherstvoy;Eur J Pediatr,1980

5. The median cleft face syndrome;DeMyer;Neurology,1967

Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB ‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit;American Journal of Medical Genetics Part A;2018-05-23

2. Prevention, Diagnosis and Services;Rare Diseases Epidemiology;2010

3. A;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. B;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

5. Prenatal diagnosis of boomerang dysplasia;American Journal of Medical Genetics Part A;2003-07-18

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