Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies

scientific article published on February 1, 1972

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.2214/AJR.114.2.257
P953full work available at URLhttps://www.ajronline.org/doi/pdf/10.2214/ajr.114.2.257
P698PubMed publication ID5058513

P2093author name stringC. D. Noonan
R. M. Saldino
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectmicromeliaQ56298700
P304page(s)257-63
P577publication date1972-02-01
P1433published inThe American journal of roentgenology, radium therapy, and nuclear medicine / official organ of the American Roentgen Ray Society, the American Radium SocietyQ26839836
P1476titleSevere thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies
P478volume114

Reverse relations

cites work (P2860)
Q69759826Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias
Q57929284Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski)
Q79098533Biliary tract malformations
Q41937081Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants
Q52300423Difficulties in classification of the short rib-polydactyly syndromes.
Q36312563International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone
Q33595991Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum
Q33906963Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.
Q36093146Morphologic studies in the skeletal dysplasias
Q41201404Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type
Q41914400Ocular pathology of the Majewski syndrome
Q55062542Oral abnormalities in the Saldino-Noonan syndrome.
Q33669480Parental consanguinity and the Majewski syndrome
Q41466387Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes
Q52282152Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation.
Q67657392Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism
Q52169910Recurrence of short rib polydactyly syndrome - a rare skeletal dysplasia.
Q33677351Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.
Q47852065Short rib polydactyly syndrome - type 2 (Majewski).
Q79985554Short rib polydactyly syndrome-Type I
Q44508587Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan
Q52300194Short rib-polydactyly syndrome type I, Saldino-Noonan.
Q33671811Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases
Q73073493Short rib-polydactyly syndrome: more evidence of a continuous spectrum

Search more.