Fibrochondrogenesis

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


Total: 5

                       


(per page)
PMID (PMCID)
25091507
 FEMALE
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ.
Am J Med Genet A. 2014;164A(10):2607-12.
The most common type XI collagenopathies are dominantly inherited Stickler or Marshall syndromes, while severe recessive skeletal dysplasias, such as fibrochondrogenesis, occur less frequently.
22246659
(3264686)
 OTHER Infant, Newborn
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH.
Am J Med Genet A. 2012;158A(2):309-14.
Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the pro9451(XI) chain of type XI collagen, COL11A1.
15876767
 MALE Infant, Newborn
Fibrochondrogenesis.
Kulkarni ML, Matadh PS, Praveen Prabhu SP, Kulkarni PM.
Indian J Pediatr. 2005;72(4):355-7.
Fibrochondrogenesis is a rare lethal short-limb skeletal dysplasia.
14605823
 FEMALE Adult
Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities.
Sahinoglu Z, Uludogan M, Gurbuz A, Karateke A.
Arch Gynecol Obstet. 2003;269(1):57-61.
The prenatal diagnosis of thanatophoric dysplasia has been well established by ultrasonography in the second trimester; however it is not always possible to differentiate the thanatophoric dysplasia fetuses from the others with skeletal dysplasias like fibrochondrogenesis or atelosteogenesis by ultrasonography.
6507479
 FEMALE Infant, Newborn
Fibrochondrogenesis: radiologic and histologic studies.
Eteson DJ, Adomian GE, Ornoy A, Koide T, Sugiura Y, Calabro A, Lungarotti S, Mastroiacovo P, Lachman RS, Rimoin DL.
Am J Med Genet. 1984;19(2):277-90.
Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978.