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A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.

Noe EJ, Yoo HW, Kim KN, Lee SY - Korean J Pediatr (2010)

Bottom Line: It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies.These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4.We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.

ABSTRACT
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.

No MeSH data available.


Related in: MedlinePlus

Newborn infantogram demonstrating thanatophoric dysplasia type I (TD1) findings, including platyspondyly, a severely hypoplastic pelvis, long bone shortness (A), hypoplasia of the lungs and thorax (B), and femoral bowing ("telephone receiver" femur) (C).
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Figure 2: Newborn infantogram demonstrating thanatophoric dysplasia type I (TD1) findings, including platyspondyly, a severely hypoplastic pelvis, long bone shortness (A), hypoplasia of the lungs and thorax (B), and femoral bowing ("telephone receiver" femur) (C).

Mentions: The radiographs showed a large calvaria with a small cranial base, marked thinning and flattening of the vertebral bodies, short ribs, hypoplasia of the pelvic bones, and small curved long bones so called telephone receiver femur (Fig. 2).


A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene.

Noe EJ, Yoo HW, Kim KN, Lee SY - Korean J Pediatr (2010)

Newborn infantogram demonstrating thanatophoric dysplasia type I (TD1) findings, including platyspondyly, a severely hypoplastic pelvis, long bone shortness (A), hypoplasia of the lungs and thorax (B), and femoral bowing ("telephone receiver" femur) (C).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3021729&req=5

Figure 2: Newborn infantogram demonstrating thanatophoric dysplasia type I (TD1) findings, including platyspondyly, a severely hypoplastic pelvis, long bone shortness (A), hypoplasia of the lungs and thorax (B), and femoral bowing ("telephone receiver" femur) (C).
Mentions: The radiographs showed a large calvaria with a small cranial base, marked thinning and flattening of the vertebral bodies, short ribs, hypoplasia of the pelvic bones, and small curved long bones so called telephone receiver femur (Fig. 2).

Bottom Line: It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies.These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4.We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.

ABSTRACT
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.

No MeSH data available.


Related in: MedlinePlus