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ALLMedicine™ Atelosteogenesis Type 1 Center

Research & Reviews  3 results

Atelosteogenesis type 1

Nov 1st, 2019 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1190 Definition A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism...

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeleta...
American Journal of Medical Genetics. Part A; Rehder H, Laccone F et. al.

May 26th, 2018 - The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened "flipper-like" limbs, polysyndactyly, excessive underossi...

Prenatal sonographic features of fetal atelosteogenesis type 1.
Journal of Ultrasound in Medicine : Official Journal of T... Luewan S, Sukpan K et. al.

Aug 1st, 2009 - Prenatal sonographic features of fetal atelosteogenesis type 1.|2009|Luewan S,Sukpan K,Udomwan P,Tongsong T,|diagnostic imaging,diagnostic imaging,diagnostic imaging,methods,

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