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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

Antenatal ultrasound image showing bilateral club foot (white arrows).
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Figure 2: Antenatal ultrasound image showing bilateral club foot (white arrows).

Mentions: A 20-year-old primipara, underwent a routine antenatal ultrasound checkup in the third trimester, at our Institute. Ultrasound images showed a molded fetal head, with bilateral temporal bulging and decreased mineralization of the fetal skull vault, with disparity in the fetal limb parameters, bronchopulmonary dysplasia (BPD), and gestational age. A rhizomelic type of dwarfism showing underdeveloped limbs was noted. Metaphyseal flaring with irregularity was observed in the long tubular bones of both the upper and lower extremities [Figure 1]. The metaphyseal ends of the small tubular bones of the hand and foot were normal. Bilateral club foot was noted [Figure 2]. The fetal spine demonstrated severe platyspondyly with unossified posterior vertebral elements, suggestive of defective mineralization [Figure 3]. Other additional features were dorsolumbar scoliosis, short and narrow fetal thorax, and mild protuberance of the abdomen. The 3D fetal face sonogram revealed a depressed nasal bridge and a long philtrum [Figure 4]. After considering all the findings, a provisional diagnosis of fibrochondrogenesis was made.


Fibrochondrogenesis, an antenatal and postnatal correlation.

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

Antenatal ultrasound image showing bilateral club foot (white arrows).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: Antenatal ultrasound image showing bilateral club foot (white arrows).
Mentions: A 20-year-old primipara, underwent a routine antenatal ultrasound checkup in the third trimester, at our Institute. Ultrasound images showed a molded fetal head, with bilateral temporal bulging and decreased mineralization of the fetal skull vault, with disparity in the fetal limb parameters, bronchopulmonary dysplasia (BPD), and gestational age. A rhizomelic type of dwarfism showing underdeveloped limbs was noted. Metaphyseal flaring with irregularity was observed in the long tubular bones of both the upper and lower extremities [Figure 1]. The metaphyseal ends of the small tubular bones of the hand and foot were normal. Bilateral club foot was noted [Figure 2]. The fetal spine demonstrated severe platyspondyly with unossified posterior vertebral elements, suggestive of defective mineralization [Figure 3]. Other additional features were dorsolumbar scoliosis, short and narrow fetal thorax, and mild protuberance of the abdomen. The 3D fetal face sonogram revealed a depressed nasal bridge and a long philtrum [Figure 4]. After considering all the findings, a provisional diagnosis of fibrochondrogenesis was made.

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