Results 11 to 20 of about 848 (140)
Opsismodysplasia: Phosphate wasting osteodystrophy responds to bisphosphonate therapy [PDF]
Frontiers in Pediatrics, 2015 We present two siblings affected with opsismodysplasia, a rare skeletal dysplasia caused by mutations in the INPPL1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed ...
Ansab eKhwaja +4 more
doaj +2 more sources
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome)
Indian Journal of Radiology and Imaging, 2010 Short rib polydactyly syndrome (SRPS) type 2 (Majewski syndrome) is a rare inherited, autosomal recessive, lethal skeletal dysplasia characterized by horizontally located short ribs, pre- and postaxial polysyndactyly, and micromelia, with characteristic ...
Jutur Pramod +2 more
doaj +5 more sources
Persistent Notochord in a Fetus with COL2A1 Mutation [PDF]
Case Reports in Obstetrics and Gynecology, 2015 Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation.
Elisabeth Codsi +4 more
doaj +2 more sources
Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]
Revista de la Asociación Argentina de Ortopedia y Traumatología, 2018 La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y ...
Jessica Andrea Suárez Zarrate +2 more
doaj +3 more sources
Síndrome de costillas cortas y polidactilia: displasia esquelética fetal incompatible con la vida [PDF]
Anales de la Facultad de Medicina, 2010 El síndrome costillas cortas polidactilia es una categoría descriptiva para un grupo de displasias esqueléticas incompatibles con la vida, caracterizadas por tórax estrecho, costillas extremadamente pequeñas, micromelia, polidactilia y anomalías ...
Erasmo Huertas +3 more
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Antenatal Diagnosis of Achondrogenesis Type II
Journal of Nepal Medical Association, 2009 Achondrogenesis is a lethal congenital chondrodystrophy characterized by extreme micromelia, small thorax and polyhydramnios. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis). Prenatal ultrasonography at 22-weeks gestation
Sreelakshmi Kodandapani, V Ramkumar
doaj +2 more sources
Thanatophoric Skeletal Dysplasia: A Case Report
Journal of Nepal Medical Association, 2020 Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat ...
Firoz Anjum +2 more
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Pengaruh Endoxan-Asta (Cyclophosphamide) pada Pertumbuhan Embryo Ayam [PDF]
Journal of Mathematical and Fundamental Sciences, 2019 Ringkasan. Telah diteliti pengaruh Endoxan-Asta (cyclophosphamide) terhadap pertumbuhan embryo ayam dengan jalan menyuntikkannya ke dalam kantung yolk pada umur 4 dan 5 hari inkubasi.
Sri Sudarwati, Tien Wiati Suryono
doaj +2 more sources
A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome [PDF]
Case Reports in Pulmonology, 2015 Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities ...
Nihat Demir +5 more
doaj +2 more sources
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis [PDF]
Sultan Qaboos University Medical Journal, 2013 Objectives: Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia.
Renate Marquis-Nicholson +2 more
doaj +1 more source