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Fibrochondrogenesis, an antenatal and postnatal correlation.

Kundaragi NG, Taori K, Jathar C, Disawal A - J Clin Imaging Sci (2012)

Bottom Line: Fibrochondrogenesis is a rare, neonatally lethal osteochondrodysplasia, with autosomal recessive inheritance.It differs from other lethal dwarfisms in that it leads to broad, long-bone metaphyses (dumb-bell shaped) and pear-shaped vertebral bodies.Only few cases of fibrochondrogenesis are diagnosed before the termination of pregnancy.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiodiagnosis, Government Medical College, Nagpur, India.

ABSTRACT
Fibrochondrogenesis is a rare, neonatally lethal osteochondrodysplasia, with autosomal recessive inheritance. It differs from other lethal dwarfisms in that it leads to broad, long-bone metaphyses (dumb-bell shaped) and pear-shaped vertebral bodies. We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal ultrasound and postnatal radiographic findings. Only few cases of fibrochondrogenesis are diagnosed before the termination of pregnancy.

No MeSH data available.


Related in: MedlinePlus

Clinical photograph of the infant showing flat mid face with depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities with enlarged joint regions, with contractures and restriction of joint movements, and bilateral club foot.
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Figure 5: Clinical photograph of the infant showing flat mid face with depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities with enlarged joint regions, with contractures and restriction of joint movements, and bilateral club foot.

Mentions: The patient delivered a live female child within a few days. The antenatal findings were confirmed postnatally. The postnatal infant examination [Figure 5] revealed a flat mid face, with a depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities, with enlarged joint regions, contractures and restriction of joint movements, and bilateral club foot.


Fibrochondrogenesis, an antenatal and postnatal correlation.

Kundaragi NG, Taori K, Jathar C, Disawal A - J Clin Imaging Sci (2012)

Clinical photograph of the infant showing flat mid face with depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities with enlarged joint regions, with contractures and restriction of joint movements, and bilateral club foot.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3307213&req=5

Figure 5: Clinical photograph of the infant showing flat mid face with depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities with enlarged joint regions, with contractures and restriction of joint movements, and bilateral club foot.
Mentions: The patient delivered a live female child within a few days. The antenatal findings were confirmed postnatally. The postnatal infant examination [Figure 5] revealed a flat mid face, with a depressed nasal bridge, flat nose with anteverted nares, long philtrum, short and narrow thorax, scoliosis, deformed extremities, with enlarged joint regions, contractures and restriction of joint movements, and bilateral club foot.

Bottom Line: Fibrochondrogenesis is a rare, neonatally lethal osteochondrodysplasia, with autosomal recessive inheritance.It differs from other lethal dwarfisms in that it leads to broad, long-bone metaphyses (dumb-bell shaped) and pear-shaped vertebral bodies.Only few cases of fibrochondrogenesis are diagnosed before the termination of pregnancy.

View Article: PubMed Central - PubMed

Affiliation: Department of Radiodiagnosis, Government Medical College, Nagpur, India.

ABSTRACT
Fibrochondrogenesis is a rare, neonatally lethal osteochondrodysplasia, with autosomal recessive inheritance. It differs from other lethal dwarfisms in that it leads to broad, long-bone metaphyses (dumb-bell shaped) and pear-shaped vertebral bodies. We report a case of fibrochondrogenesis with severe pear-shaped platyspondyly, suspected antenatally, and give a comprehensive pictorial review of the antenatal ultrasound and postnatal radiographic findings. Only few cases of fibrochondrogenesis are diagnosed before the termination of pregnancy.

No MeSH data available.


Related in: MedlinePlus