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Pathological Case of the Month FREE

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Section Editor: Enid Gilbert-barness, MD

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Arch Pediatr Adolesc Med. 2001;155(8):970. doi:10.1001/archpedi.155.8.969.
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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.

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).

Beemer  FAKramer  PPvan der Harten  HJGerards  LJ A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet. 1985;20555- 558
Burton  BKSumner  TLanger  LO  Jr  et al.  A new skeletal dysplasia: clinical, radiologic, and pathologic findings. J Pediatr. 1986;109642- 648
Gillessen-Kaesbach  GMeinecke  PAusems  MG  et al.  Desbuquois syndrome: three further cases and review of the literature. Clin Dysmorphol. 1995;4136- 144
Jequier  SPerreault  GMaroteaux  P Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Pediatr Radiol. 1992;22440- 442
Le Merrer  MYoung  IDStanescu  VMaroteaux  P Desbuquois syndrome. Eur J Pediatr. 1991;150793- 796
Meinecke  PSpranger  JSchaefer  EMaroteaux  P Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. Am J Med Genet. 1989;32432- 434
Shohat  MLachman  RGruber  HE  et al.  Desbuquois syndrome: clinical, radiographic, and morphologic characterization. Am J Med Genet. 1994;529- 18
McKusick  VAed Online Mendelian Inheritance in Man, OMIN.  September21 1999; Baltimore, Md Johns Hopkins UniversityNational Center for Biotechnology Information Web site. Available at:http://www.ncbi.nlm.nih.gov/omimAccessibility verified May 24, 2001

Tables

References

Beemer  FAKramer  PPvan der Harten  HJGerards  LJ A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet. 1985;20555- 558
Burton  BKSumner  TLanger  LO  Jr  et al.  A new skeletal dysplasia: clinical, radiologic, and pathologic findings. J Pediatr. 1986;109642- 648
Gillessen-Kaesbach  GMeinecke  PAusems  MG  et al.  Desbuquois syndrome: three further cases and review of the literature. Clin Dysmorphol. 1995;4136- 144
Jequier  SPerreault  GMaroteaux  P Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Pediatr Radiol. 1992;22440- 442
Le Merrer  MYoung  IDStanescu  VMaroteaux  P Desbuquois syndrome. Eur J Pediatr. 1991;150793- 796
Meinecke  PSpranger  JSchaefer  EMaroteaux  P Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation. Am J Med Genet. 1989;32432- 434
Shohat  MLachman  RGruber  HE  et al.  Desbuquois syndrome: clinical, radiographic, and morphologic characterization. Am J Med Genet. 1994;529- 18
McKusick  VAed Online Mendelian Inheritance in Man, OMIN.  September21 1999; Baltimore, Md Johns Hopkins UniversityNational Center for Biotechnology Information Web site. Available at:http://www.ncbi.nlm.nih.gov/omimAccessibility verified May 24, 2001

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