Desbuquois syndrome: Clinical, radiographic, and morphologic characterization

Shohat, Mordechai; Lachman, Ralph S.; He, Guanghua; Ye, Hsia; Ms, Golbus; Dr, Witt; Bodell, Adria; Cr, Bryke; Wa, Hogge; Dl, Rimoin

doi:10.1002/ajmg.1320520104

Cited by 42 publications

(58 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The vertebral bodies showed sagittal clefts in the lumbar and thoracic regions of the spine in cases 1 and 2, and more severe ossification defects of the spine in case 3 (Supplementary Figure s2). Histological examination of the long bones revealed crowding of enlarged resting chondrocytes, and short, irregular columns with ovoid groupings of chondrocytes, as described by Shohat et al 6 In addition, there were distinctly hypoplastic lungs, laryngeal stenosis, and dilatation of ureters and renal pelvices in case 1, ASD in the affected sib of case 1, horseshoe kidneys in case 2, laryngo-tracheomalacia in the affected sib of case 2, and subaortic septal hypertrophy in case 3. Considering the characteristic findings and the affected sibs, (recurrent) DBQD type 1 was diagnosed in all three hydropic fetuses (Supplementary Table s1).…”

Section: Autopsysupporting

confidence: 58%

“…This is consistent with previous reports that suggest a male preponderance of 2:3 F/M in DBQD type 1, 3 and of 1:4 (4:17) F/M in 'early lethal DBQD' . 1,3,6,9,12,21,22 A good explanation for a male preponderance is still lacking; one possibility would be a better prenatal survival of male fetuses. 15 …”

Section: Discussionmentioning

confidence: 99%

“…Characteristic radiologic features are a small d-shaped extraphalangeal bone, distal to the second metacarpal, leading to radial deviation of the index fingers, metaphyseal flaring with prominent lesser trochanter, causing a monkey wrench appearance of the proximal femora, horizontal acetabular roofs with dislocation of femoral heads, narrow thorax, and coronal or sagittal clefting of the vertebrae. [1][2][3][4][5][6] There are cases with mild clinical features that show no prenatal growth failure, normal hands, and only minor facial dysmorphism and joint problems. Thus, the disorder has been divided into two distinct groups with normal hands (type 2), and with abnormal hands (type 1).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

et al. 2011

View full text Add to dashboard Cite

We report on three hydropic fetuses of 17, 22 and 25 gestational weeks from three distinct families presenting with Desbuquois dysplasia type 1. All fetuses showed brachymelia and characteristic dysmorphic features. X-ray studies revealed d-shaped extraphalangeal bones and disease-specific prominence of the lesser trochanter, varying in severity with fetal age. Early lethal manifestation of the disorder was reflected in lung hypoplasia and in early death of similarly affected siblings in cases 1 and 2. All families were German Caucasians by descent. Sequence analysis of the CANT1 gene revealed two frameshift mutations, c.228_229insC and c.277_278delCT, in homozygous and compound heterozygous configuration, respectively, and a homozygously novel missense mutation, c.336C4A (p.D112E), located within a highly conserved region of exon 2. Haplotype analyses by high-resolution single-nucleotide polymorphism array showed that the haplotype associated with c.228_229insC may be traced to a single founder in the German population.

show abstract

Section: Autopsysupporting

confidence: 58%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Severe joint laxity and dislocation overlap with Larsen syndrome. The narrow chest cavity and concurrent kyphoscoliosis often contribute to respiratory infections and respiratory failure resulting in death soon after birth [Desbuquois et al, 1966;Meinecke et al, 1989;Shohat et al, 1994;Hall, 1999;Faivre et al, 2003Faivre et al, , 2004a. We report three sisters with significantly different lengths of survival.…”

mentioning

confidence: 73%

“…We report three sisters with significantly different lengths of survival. Patients 1 and 2 were briefly mentioned and listed as case 6 and 7 of Shohat et al [1994].…”

mentioning

confidence: 99%

Desbuquois syndrome in three sisters with significantly different lengths of survival

Lloyd

Ragosta

Bryke³

et al. 2006

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Pathological Case of the Month

Prosen

Craven²,

McPherson³

et al. 2001

Arch Pediatr Adolesc Med

Self Cite

View full text Add to dashboard Cite

A 29-YEAR-OLD Middle Eastern gravida 2 para 1 woman was referred for perinatal evaluation after a routine ultrasound at 21 weeks' gestation was suspicious for skeletal dysplasia (long bones measured Ͻfifth percentile). Bilateral clubbed feet were also noted. Her family history was unremarkable, without a history of skeletal dysplasia. A detailed ultrasound at our institution revealed shortening of all long bones (Ͻfifth percentile) as well as shortening of the fetal foot. The ribs measured at the 50th percentile for gestational age, and the chest circumference was at the 10th to 25th percentile. Bilateral syndactyly of the third, fourth, and fifth digits of the hands was suspected. The hands also had a no-table separation of the second and third digits (Figure 1). Bilateral clubbed feet with a rocker bottom appearance were noted. The right foot was thought to have polydactyly, and the toes of both feet appeared unusually long, except for the great toes, which appeared shortened. The fetal eyes protruded from the orbits. Results of fetal echocardiogram were normal. The karyotype was 46,XX. Cytogenetic studies for Robert syndrome were negative. An ultrasound obtained 13 days later had the additional finding of suspected polydactyly of both feet. The couple opted to terminate the pregnancy and underwent labor induction at 23 weeks' gestation. Autopsy findings (Figure 2) included short long bones of both the upper and lower extremities; short, stubby, tapered fingers; clinodactyly of the fifth fingers bilaterally; short, stubby, great toes bilaterally with wide space between the first and second toes; abnormal palmar creases; short, broad neck; micrognathia; and hypoplastic lungs. Radiography (Figure 3) revealed supernumerary ossification center between the proximal phalanx and the second metacarpal of the index finger. Figure 1. Figure 2. Figure 3.

show abstract

Desbuquois syndrome: Clinical, radiographic, and morphologic characterization

Cited by 42 publications

References 14 publications

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

Desbuquois syndrome in three sisters with significantly different lengths of survival

Pathological Case of the Month

Contact Info

Product

Resources

About