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Special Feature
August 2001

Pathological Case of the Month

Arch Pediatr Adolesc Med. 2001;155(8):970. doi:10.1001/archpedi.155.8.969
Diagnosis and Discussion: Desbuquois Syndrome

Figure 1. Ultrasound of hand position.

Figure 2. Autopsy photograph.

Figure 3. Composite of radiographs of the fetus.

Desbuquois syndrome is a rare skeletal dysplasia with presumed autosomal recessive inheritance. It is characterized by micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities, and advanced carpotarsal ossification. The findings in the hands are particularly distinctive with supernumerary ossification centers that cause deviation of the fingers. Dysmorphic facial features include a round flat face, prominent eyes, micrognathia, and long upper lip with flat philtrum. Severe, and even lethal, respiratory distress owing to the small thorax is not uncommon. Survivors have developmental delay and generalized joint laxity, with dislocatable knees, which is progressive.18

We suspected the diagnosis prenatally based on the extreme shortening of the long bones coupled with the abnormal positioning of the fetal hands. The presumed polydactyly, in retrospect, likely reflected the presence of supernumerary ossification centers. To our knowledge, this represents the first case of Desbuquois syndrome diagnosed prenatally in a family without a prior history of the disorder.

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Article Information

Accepted for publication June 22, 2000.

Presented as a poster at the American Society of Human Genetics Annual Meeting, San Francisco, Calif, October 20, 1999.

Reprints: Tracy Prosen, MD, Department of Genetics, Magee-Womens Hospital, 300 Halket St, Pittsburgh, PA 15213 (e-mail: tprosen@mail.magee.edu).

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