Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia

scientific article

Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00247-004-1375-5
P698PubMed publication ID15635470

P2093author name stringGabriele Benz-Bohm
Friederike Körber
A Eldad Horwitz
Eckard Schönau
P2860cites workCongenital bowing of the long bonesQ93701951
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversalQ24672071
SOX9 directly regulates the type-II collagen geneQ28512288
Functional-anatomic evaluation of dilated uropathies in children using combined MR-nephrography and MR-urography compared to renal scintigraphyQ30899697
Genetic study of SOX9 in a case of campomelic dysplasiaQ32063430
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and reviewQ33596459
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Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fracturesQ34151089
Congenital bowing of the long bones in two sistersQ34696164
Congenital bowing of the long bones: report of a caseQ36049731
Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: Two further casesQ36940668
Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approachQ37915233
Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-RoQ39444292
Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theoriesQ39804165
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Epidemiological analysis of outcomes of pregnancy in diabetic mothers: identification of the most characteristic and most frequent congenital anomaliesQ44765895
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In utero ultrasonographic features of campomelic dysplasia.Q52244307
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Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).Q52282689
Prenatal bowing and angulation of long bones; a description of its occurrence in a brother and sister.Q52362584
Prenatal bowing and thickening of tubular bones, with multiple cutaneous dimples in arms and legs; a congenital syndrome of mechanical origin.Q52370403
Campomelic syndrome: concepts of the bowing and shortening in the lower limbs.Q54070839
Experimental causation of congenital skeletal defects and its significance in orthopaedic surgery.Q54303504
Insulin-induced skeletal abnormalities in developing chickens.Q55083641
Antley-Bixler syndrome with radioulnar synostosisQ56351018
Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetesQ57384777
Maternal diabetes: the risk for specific birth defectsQ67554672
Isolated congenital bowed long bonesQ70027852
Congenital deficiency of the femurQ70090339
Skeletal defects in embryonic chicks induced by administration of beta-aminopropionitrileQ70340300
The histopathology of camptomelia (bent limbs). A dyschondrogenesisQ70397299
[Coumarin embryopathy]Q71309445
[The campomelic syndrome]Q71786081
[Prenatal bowing of the long tubular bones]Q72236628
Congenital bilateral short femur complicated by stress fracture. A case reportQ73483334
[Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)]Q75828713
P433issue6
P304page(s)641-646
P577publication date2005-01-06
P1433published inPediatric RadiologyQ7159214
P1476titleIsolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia
P478volume35

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