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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.

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.

Postnatal infantogram AP view. Short, dumbbell shaped, long, tubular bones with metaphyseal irregularities (white arrows) peripheral spurs (asterisks), rhizomelic dwarfism, ribs are short and thin, and show anterior and posterior cupping, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet, squared off without obvious flaring (black arrow), with normal length. Pelvis showing short broad iliac bones noted with caudally bump-like configuration (bordered by spurs) (arrowhead), and flattened acetabulae with medial spikes and narrow sacrosciatic notches (dashed arrow).
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Figure 6: Postnatal infantogram AP view. Short, dumbbell shaped, long, tubular bones with metaphyseal irregularities (white arrows) peripheral spurs (asterisks), rhizomelic dwarfism, ribs are short and thin, and show anterior and posterior cupping, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet, squared off without obvious flaring (black arrow), with normal length. Pelvis showing short broad iliac bones noted with caudally bump-like configuration (bordered by spurs) (arrowhead), and flattened acetabulae with medial spikes and narrow sacrosciatic notches (dashed arrow).

Mentions: An infantogram showed [Figure 6] shortening of all the long tubular bones of the extremities predominantly affecting the proximal segments (rhizomelic type of dwarfism). Metaphyseal flaring, giving rise to the dumb-bell appearance, with irregularity and peripheral spurs were noted. Ribs were short with wide cupped anterior and posterior ends, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet squared off without obvious flaring and appeared normal in length. The spine demonstrated scoliosis. A lateral radiograph of the spine revealed severe pear-shaped platyspondyly, with increased intervertebral disk spaces [Figure 7]. Short broad iliac bones with caudally bump-like configuration (bordered by spurs) and flattened acetabulae with medial spikes and narrow sacrosciatic notches were observed. The baby died on day three after birth, due to respiratory distress.

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Fibrochondrogenesis, an Antenatal and Postnatal Correlation

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

Postnatal infantogram AP view. Short, dumbbell shaped, long, tubular bones with metaphyseal irregularities (white arrows) peripheral spurs (asterisks), rhizomelic dwarfism, ribs are short and thin, and show anterior and posterior cupping, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet, squared off without obvious flaring (black arrow), with normal length. Pelvis showing short broad iliac bones noted with caudally bump-like configuration (bordered by spurs) (arrowhead), and flattened acetabulae with medial spikes and narrow sacrosciatic notches (dashed arrow).
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Figure 6: Postnatal infantogram AP view. Short, dumbbell shaped, long, tubular bones with metaphyseal irregularities (white arrows) peripheral spurs (asterisks), rhizomelic dwarfism, ribs are short and thin, and show anterior and posterior cupping, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet, squared off without obvious flaring (black arrow), with normal length. Pelvis showing short broad iliac bones noted with caudally bump-like configuration (bordered by spurs) (arrowhead), and flattened acetabulae with medial spikes and narrow sacrosciatic notches (dashed arrow).
Mentions: An infantogram showed [Figure 6] shortening of all the long tubular bones of the extremities predominantly affecting the proximal segments (rhizomelic type of dwarfism). Metaphyseal flaring, giving rise to the dumb-bell appearance, with irregularity and peripheral spurs were noted. Ribs were short with wide cupped anterior and posterior ends, long and thin clavicles, and small scapulae. Metaphyses of small tubular bones of the hands and feet squared off without obvious flaring and appeared normal in length. The spine demonstrated scoliosis. A lateral radiograph of the spine revealed severe pear-shaped platyspondyly, with increased intervertebral disk spaces [Figure 7]. Short broad iliac bones with caudally bump-like configuration (bordered by spurs) and flattened acetabulae with medial spikes and narrow sacrosciatic notches were observed. The baby died on day three after birth, due to respiratory distress.

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.

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.

View Similar Images In: Results  - Collection
View Article: PubMed Central -  PubMed
Show All Figures - Show MeSH
getmorefigures.php?pmc=3307213&rFormat=json&query=null&req=5