MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial‐limb disruption sequence?

Journel, Hubert; Roussey, M.; Marec, B. Le

doi:10.1002/ajmg.1320340410

Cited by 24 publications

(8 citation statements)

References 14 publications

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“…The most frequent disagreement is whether facial nerve palsy without evidence of 6th cranial nerve involvement qualifies for the diagnosis of Mö bius S. It seems inappropriate not to include the 6th nerve cranial involvement, since that is what Dr. Mö bius originally described, and that conclusion was reflected in the criteria for the studies conducted by the authors. Mö bius S. is usually a sporadic event, although there are documented cases of familial occurrence and a few cases of chromosomal changes with clinical characteristics of Mö bius S. The genetic literature is too long to be listed completely, but includes Hanissian et al (1970), Baraitser (1977), Ziter et al (1977), Mitter and Chudley (1983), Wishnick et al (1983), Journel et al (1989), McDermot et al (1991), Slee et al (1991), Donahue et al (1993), Goddard et al (1996), Kremer et al (1996), Nishikawa et al (1997), Gorlin et al (2001), Verzijl et al (2003), Kersey and Vivian (2006).…”

Section: Mö Bius S: Historicalmentioning

confidence: 99%

Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected

Miller

Ventura

Strömland

2009

Birth Defects Research

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Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to damage to the cranial nuclei in the brain stem, resulting in aberrant neurologic connections causing a condition of abnormal ocular movement, Duane syndrome. A less frequent anomalous neurologic complication is tearing when eating (paradoxical gustolacrimal tearing or "crocodile tears") or lack of emotional tearing. The involvement of the 6th and 7th cranial nerves, often seen together in the thalidomide-affected individual, is also characteristic of Möbius syndrome/sequence. This syndrome usually occurs sporadically, but characteristic findings of this condition have also been observed in South American children who were born after an unsuccessful attempt to induce abortion with the prostaglandin drug misoprostol (Cytotec). Aberrant tearing also occurs in some individuals with Möbius syndrome. Autism spectrum disorder (ASD), an unexpected associated finding in a Swedish thalidomide study, is now also noted in Möbius studies, in patients both with and without exposure to misoprostol.

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Section: Mö Bius S: Historicalmentioning

confidence: 99%

Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected

Miller

Ventura

Strömland

2009

Birth Defects Research

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“…Although Möbius syndrome is often caused by environmental effects during pregnancy (Lipson et al 1989), transmission within large pedigrees has also been observed (Fortanier and Speijer 1935;van der Wiel 1957;Wilbrand and Saenger 1921). Limb defects have been reported in some Möbius patients, the relatives of Möbius patients and in another group of patients with both Möbius syndrome and Poland syndrome (Journel et al 1989;Larrandaburu et al 1999;MacDermot et al 1990;Parker et al 1981;Steigner et al 1975;Temtamy and McKusick 1978;Wishnick et al 1981). Linkage to chromosome 3q21-22 has been shown in one Möbius syndrome family consisting of five generations (Kremer et al 1996).…”

Section: Chromosomal Localisation and Association With Human Syndromesmentioning

confidence: 99%

SOX14 is a candidate gene for limb defects associated with BPES and M�bius syndrome

Wilmore¹,

Smith²,

Wilcox³

et al. 2000

Human Genetics

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Members of the SOX gene family encode proteins with homology to the HMG box DNA-binding domain of SRY, the Y-linked testis-determining gene. SOX genes are expressed during embryogenesis and are involved in the development of a wide range of different tissues. Mutations in SRY, SOX9 and SOX10 have been shown to be responsible for XY sex reversal, campomelic dysplasia and Waardenburg-Hirschsprung disease, respectively. It is likely that mutations in other SOX genes are responsible for a variety of human genetic diseases. SOX14 has been identified from a human genomic library and the mouse and chicken sequences obtained by polymerase chain reaction amplification. The SOX14 amino acid sequence is highly conserved across these species, suggesting an important role for this protein in vertebrate development. SOX14 is expressed in the neural tube and apical ectodermal ridge of the developing chicken limb. This is the only SOX gene known to be expressed in the apical ectodermal ridge, a structure that directs outgrowth of the embryonic limb bud. Human SOX14 is localised to a 1.15-Mb yeast artificial chromosome on chromosome 3q23, close to loci for BPES (blepharophimosis, ptosis, epicanthus inversus syndrome) and Mobius syndrome. Although SOX14 maps outside these loci, its expression pattern and chromosomal localisation suggest that it is a candidate gene for the limb defects frequently associated with these syndromes.

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“…Autosomal dominant segregation has been observed [Carmena and Gómez Marcano, 1943], and a few families with apparent autosomal recessive transmission have been reported [Legum et al, 1981]. Journel et al [1989] suggested X-linked recessive inheritance. Ziter et al [1977] observed congenital facial diplegia in 7 members of three generations of a family with reciprocal translocation between chromosomes 1 and 3 with the break points occurring at 1p34 and 13q13.…”

Section: Discussionmentioning

confidence: 99%

M�bius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

Criado

Aytés²

1999

Am. J. Med. Genet.

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Two brothers born to a healthy, consanguineous Spanish couple have a syndrome of Möbius sequence with involvement of cranial nerves V, VI, VII, IX, and XII, central nervous system malformations; characteristic face with creased earlobes, short philthrum, and a short, arched upper lip, skeletal anomalies with short sternum and delayed bone maturation, hypogenitalism, and profound mental retardation. We suggest that this is a new multiple congenital anomalies condition and mental retardation (MCA/MR) syndrome with autosomic recessive inheritance.

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MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: New syndrome or familial facial‐limb disruption sequence?

Abstract: We report on two sibs with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome who have a first cousin with Möbius anomaly. This may represent a new MCA/MR syndrome.

Cited by 24 publications

References 14 publications

Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected

Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected

SOX14 is a candidate gene for limb defects associated with BPES and M�bius syndrome

M�bius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers

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