Histopathology of fetal diastrophic dysplasia

Qureshi, Faisal; Jacques, Suzanne M.; Johnson, Sathiabama; Johnson, Mark P.; Hume, Roderick F.; Evans, Mark I.; Yang, S. Samuel

doi:10.1002/ajmg.1320560317

Cited by 16 publications

(7 citation statements)

References 15 publications

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“…Histological examination of cartilage was performed in patients 1 and 2. The changes found were compatible with DTD or AO2 (Sillence et al 1987;Schrander-Stumpel et al 1994;Qureshi et al 1995;Hästbacka et al 1996).…”

Section: Case Reportssupporting

confidence: 66%

“…The radiographs of the two sibs with McAD do indeed resemble AO2. On the other hand, most radiographs of AO2 cases in the literature (including the two McAD patients and the two patients presented here) do not show the severe hypoplasia of ulna and fibula characterstic of DLCD and resemble severe DTD more closely (Schrander-Stumpel et al 1994;Qureshi et al 1994Qureshi et al , 1995. If DLCD with ulnar and fibular hypoplasia is indeed caused by DTDST mutations, the DTDST chondrodysplasia family will gain a further member.…”

Section: Discussionmentioning

confidence: 58%

“…Their skeletal radiographs were compatible with severe DTD or AO2 (Sillence et al 1987;Schrander-Stumpel et al 1994;Qureshi et al 1995). Histological examination of cartilage was performed in patients 1 and 2.…”

Section: Case Reportsmentioning

confidence: 99%

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Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Rossi

Harten

Beemer³

et al. 1996

Human Genetics

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Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B). To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD). Reduced incorporation of inorganic sulfate into macromolecules was found in all three. Each of the three patients was found to be heterozygous for a c862t transition predicting a R279W substitution in the third extracellular loop of DTDST. In two patients (DTD and AO2/DTD), no other structural mutation was found, but polymerase chain reaction amplification and single-strand conformation polymorphism analysis of fibroblast cDNA showed reduced mRNA levels of the wild-type DTDST allele: these two patients may be compound heterozygotes for the "Finnish" mutation (as yet uncharacterized at the DNA level), which causes reduced expression of DTDST. The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine 418 (delta c418), predicting a frameshift with premature termination. Also the delta c418 allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels. The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions. This mutation has not been found so far in 8 analyzed ACG1B patients, suggesting that it allows some residual activity of the sulfate transporter.

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Section: Case Reportssupporting

confidence: 66%

Section: Discussionmentioning

confidence: 58%

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Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Rossi

Harten

Beemer³

et al. 1996

Human Genetics

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“…The physeal growth zone showed a lightly reduced thickness with short proliferating columns. The findings were comparable to previous findings in diastrophic dysplasia (Qureshi et al, 1995).…”

Section: Case Reportsupporting

confidence: 91%

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity

1998

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Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short‐limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but non‐lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post‐mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific ‘hitch‐hiker thumbs’, similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re‐evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity. © 1998 John Wiley & Sons, Ltd.

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“…Prenatal diagnosis of DD was first reported in the early 1980s using two-dimensional ultrasound (Mantagos et al, 1981;Wladimiroff et al, 1984) or fetoscopy (O'Brien et al, 1980;Kaitila et al, 1983). Since then, only 15 cases have been reported to be prenatally diagnosed up to now (O'Brien et al, 1980;Mantagos et al, 1981;Kaitila et al, 1983;Wladimiroff et al, 1984;Gollop and Eigier, 1987;Gembruch et al, 1988;Qureshi et al, 1995;Jung et al, 1998;Tongsong et al, 2002;Severi et al, 2003;Wax et al, 2003;Sepulveda et al, 2004). Most of the diagnoses of DD were performed in second-trimester fetuses.…”

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confidence: 99%

Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history

et al. 2007

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KEY WORDS: diastrophic dysplasia; diastrophic dwarfism; skeletal dysplasia; first-trimester ultrasound Diastrophic dysplasia (DD) is a severe usually nonlethal skeletal dysplasia characterized by micromelic limb shortening and normal intelligence. We describe a case diagnosed during the first-trimester routine ultrasound scan for screening of fetal anomalies in a family with no risk for the condition, which is, to the best of our knowledge, the earliest sonographic prospective diagnosis of DD.This was the third pregnancy of a 31-year-old woman, with two previous spontaneous first-trimester miscarriages and with no history of X-ray or teratogenics exposure during early pregnancy. Her family history was unremarkable for congenital anomalies, hereditary diseases or consanguinity. A transabdominal ultrasound examination at 12 + 5 weeks of gestation revealed a normal grown fetus with a crown-rump length of 60 mm, with normal nuchal translucency (1.7 mm). However, the long bones were markedly short (Figure 1(a)) (femur: 5.0 mm, humerus 5.2 mm); therefore, a transvaginal scan was performed. Other significant findings at that time were a bilateral 'hitchhiker' thumb ( Figure 2(a)), 'buddha' position of the lower limbs and bilateral clubfoot. Biparietal diameter, head and abdominal circumference were within normal ranges for gestational age. The skull and intracranial structures, thorax and spine appeared normal, whilst no other structural malformations were detected in the remaining organs, and with normal amniotic fluid volume as well. Mainly on the basis of the long bones shortening, clubfeet and 'hitchhiker' thumbs findings, DD was strongly suspected.Chorionic villus sampling for fetal karyotyping was performed, and one week later a follow-up ultrasound scan confirmed all of the previous findings. After counselling, the parents elected to terminate the pregnancy at 14 weeks, which was performed by vaginal prostaglandine administration.The external examination at autopsy demonstrated all of the ultrasonographic findings and a further micrognathia that had been overlooked (Figures 1(b) and 2(b)). *Correspondence to: M. J. Canto, Crtra Sant Cugat 11-15, 2-1,

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Histopathology of fetal diastrophic dysplasia

Cited by 16 publications

References 15 publications

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity

Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history

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