Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB

Pallotta, R; Ehresmann, Tamara; Fusilli, Paola

doi:10.1002/1096-8628(20001218)95:5<477::aid-ajmg13>3.0.co;2-m

Cited by 13 publications

(8 citation statements)

References 11 publications

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“…These typically include ptosis, restricted movement of the extraocular muscles, and/or strabismus 27,28 , findings that suggest that the extraocular as well as the skeletal muscles are involved in the pathogenesis of DA5. Recently, several unrelated individuals with DA5 have been reported as having pulmonary hypertension as a result of restrictive lung disease 29 .…”

Section: Distal Arthrogryposis Type 5 (Da5)mentioning

confidence: 99%

Arthrogryposis: A Review and Update

Bamshad

Heest

Pleasure

2009

Journal of Bone and Joint Surgery

351

313

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Section: Distal Arthrogryposis Type 5 (Da5)mentioning

confidence: 99%

Arthrogryposis: A Review and Update

Bamshad

Heest

Pleasure

2009

Journal of Bone and Joint Surgery

351

313

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“…2004), Marden–Walker syndrome (Ozkunay et al . 1995), distal arthrogryposis type 2B (Pallotta et al . 2000), Shah–Waardenberg syndrome (Yoder & Prayson 2002), Fryns' syndrome (Dean et al .…”

Section: Review Of Published Reportsmentioning

confidence: 99%

Dandy–Walker syndrome and chromosomal abnormalities

Imataka

Yamanouchi

Arisaka

2007

Congenital Anomalies

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Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.

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“…A small subset of DA5 is known to show vertebral and phalangeal fusions [Krieger and Espiritu, ; Sach et al, 1978; Kawira and Bender, ; Zeiter and Boniuk, ; Castori et al, ]. Restrictive lung disease resulting in fatal pulmonary hypertension has recently attracted attention in certain families of DA5 [Pallotta et al, ; Beals and Weleber, ; Williams et al, ; Castori et al, ].…”

Section: Introductionmentioning

confidence: 99%

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation

Okubo

Fujita²,

Saito³

et al. 2015

American J of Med Genetics Pt A

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Distal arthrogryposis (DA) encompasses a heterogeneous group of hereditary disorders with multiple congenital contractures predominant in the distal extremities. A total of 10 subtypes are proposed based on the pattern of contractures and association with extraarticular symptoms. DA5 is defined as a subtype with ptosis/oculomotor limitation. However, affected individuals have a variety of non-ocular features as well. We report on a two-generation family, including four affected individuals who all had congenital contractures of the distal joints, ptosis, restricted ocular movements, distinct facial appearance with deep-set eyes, and shortening of the 1st and 5th toes. The proband and her affected mother had restrictive lung disease, a recently recognized syndromic component of DA5, while younger patients did not. The proband had metacarpal and metatarsal synostosis, and the mother showed excavation of the optic disk. Whole-exome sequencing revealed a novel heterozygous mutation c.4456G>C (p.A1486P) of PIEZO2. PIEZO2 encodes a mechanosensitive ion channel, malfunction of which provides pleiotropic effects on joints, ocular muscles, lung function, and bone development.

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Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIB

Cited by 13 publications

References 11 publications

Arthrogryposis: A Review and Update

Arthrogryposis: A Review and Update

Dandy–Walker syndrome and chromosomal abnormalities

A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation

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