Prenatal Ultrasonography: Clinical and Radiological Findings in a Boy with Fibrochondrogenesis

Mégarbané, André; Haddad, S; Berjaoui, Lama

doi:10.1055/s-2007-993966

Cited by 10 publications

(6 citation statements)

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“…The disease does not seem to be gender related, since in our fetuses, the first was female, and the second male. This also corresponds with the previous published cases with a description of male [Eteson et al, 1984;Bankier et al, 1991;Hunt and Vujanic, 1998;Mégarbané et al, 1998;Al-Gazali et al, 1999;Randrianaivo et al, 2002] and female fetuses [Lazzaroni-Fossati et al, 1978;Whitley et al, 1984;Martinéz-Frías et al, 1996;Al-Gazali et al, 1997;Al-Gazali et al, 1999].…”

Section: Discussionsupporting

confidence: 91%

“…and flat hypoplastic nose with anteverted nares, all of which is very similar to the cases in the literature [Whitley et al, 1984;Bankier et al, 1991;Martinéz-Frías et al, 1996;Al-Gazali et al, 1997;Mégarbané et al, 1998;Al-Gazali et al, 1999].…”

Section: Discussionsupporting

confidence: 86%

“…Before this, autosomal recessive inheritance was suggested in two other reports [LazzaroniFossati et al, 1978;Mégarbané et al, 1998]. The first case involved an uncle-niece marriage [LazzaroniFossati et al, 1978]; the latter a second-cousin marriage [Mégarbané et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

“…A very rare lethal osteochondrodysplasia is fibrochondrogenesis. Only 12 other cases have been previously published [Lazzaroni-Fossati et al, 1978;Eteson et al, 1984;Whitley et al, 1984;Bankier et al, 1991;Martinéz-Frías et al, 1996;Al-Gazali et al, 1997;Hunt and Vujanic, 1998;Mégarbané et al, 1998;Al-Gazali et al, 1999;Randrianaivo et al, 2002] since the initial report by Lazzaroni-Fossati et al [1978].…”

Section: Introductionmentioning

confidence: 99%

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Two sibs with fibrochondrogenesis

Leeners

Funk

Cotarelo

et al. 2004

American J of Med Genetics Pt A

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Fibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of cartilage and bones. These disorders are a heterogenous group of genetic disorders with a total incidence of 1-3 in 10,000 births. Only 13 cases of fibrochondrogenesis have been published since Lazzaroni-Fossati et al. [1978] first described the disorder. We report on two sibs that occurred in a consanguineous couple and discuss the ultrasonographic, clinical, radiological, and pathological characteristics of this disorder. This occurrence confirms autosomal recessive inheritance of fibrochondrogenesis.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Two sibs with fibrochondrogenesis

Leeners

Funk

Cotarelo

et al. 2004

American J of Med Genetics Pt A

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“…The aim of this article is to report a rare and lethal fetal pathology which may be diagnosed prenatally and which requires genetic counselling in alerted families. Fibrochondrogenesis is an osteochondrodysplasia, to our knowledge reported in only 13 cases (al-Gazali et al, 1997;1999;Bankier et al, 1991;Eteson et al, 1984;Hunt and Vujanic, 1998;Lazzaroni-Fossati et al, 1978;Martinez-Frias et al, 1996;Megarbane et al, 1998;Sauer et al, 2000;Whitley et al, 1984). Consanguinity and familial recurrence was found in two families (Lazzaroni-Fossati et al, 1978;al-Gazali et al, 1997;1999).…”

Section: Introductionmentioning

confidence: 96%

Fetal fibrochondrogenesis at 26 weeks' gestation

et al. 2002

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Fibrochondrogenesis is a rare and lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. We report a male fetus in which the diagnosis of lethal osteochondrodysplasia was suspected on prenatal ultrasound and radiological examinations during the second trimester of pregnancy. After termination of pregnancy, fibrochondrogenesis was diagnosed by radiological examination and histological study of fetal bones. Interwoven fibrous septa and fibroblastic degeneration of chondrocytes are pathognomonic. The recurrence rate is 25% and accurate diagnosis is necessary to enable genetic counselling.

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