Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello‐Carey or new syndrome?

Jespers, Ann; Buntinx, I.; Melis, K.; Vaerenberg, M.; Janssens, G.

doi:10.1002/ajmg.1320470232

Cited by 28 publications

(25 citation statements)

References 4 publications

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“…Positional anomalies of the foot and hypermobility of the joints observed in our siblings were also occasionally recorded [Jespers et al, 1993;Chinen et al, 1999;Ohta et al, 1999;Aftimos and McGaughran, 2001]. Brachydactyly is common in Toriello-Carey syndrome, but short upper limbs and synostosis of the metacarpal bones are previously unreported findings.…”

Section: Discussionmentioning

confidence: 59%

“…So far 16 cases have been reported [Lacombe et al, 1992;Camera et al, 1993;Jespers et al, 1993;Czarnecki et al, 1996;Till et al, 1997;Chinen et al, 1999;Ohta et al, 1999;Aftimos and McGaughran, 2001;Wegner and Hersh, 2001]. Czarnecki et al [1996] indicated an unbalanced sex ratio and proposed an Xlinked or sex-influenced mode of inheritance.…”

Section: Introductionmentioning

confidence: 95%

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Further delineation of the Toriello‐Carey syndrome: A report of two siblings

Barišić

Peter

Mikecin

2002

American J of Med Genetics Pt A

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Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including telecanthus/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence. Affected patients also show several other important signs of midline field disruption: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defects. Hypotonia and developmental delay are present in most reported cases. Autosomal recessive inheritance was proposed, but an X-linked or sex-influenced gene disorder was also suspected. We report on two siblings, a brother and sister, supporting further an autosomal recessive type of inheritance. Both patients had severe clinical presentation with death in early infancy. Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation.

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Section: Discussionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 95%

Further delineation of the Toriello‐Carey syndrome: A report of two siblings

Barišić

Peter

Mikecin

2002

American J of Med Genetics Pt A

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“…Three of those children were sibs; the fourth was an isolated case. Since that time, 16 additional patients have been published [Lacombe et al, 1992;Camera et al, 1993;Jespers et al, 1993;Czarnecki et al, 1996;Till et al, 1997;Chinen et al, 1999;Ohta et al, 1999;Aftimos and McGaughran, 2001;Wegner and Hersh, 2001;Paladini et al, 2002;Barisic et al, 2003]. We have also had the opportunity to review over 40 unpublished patients, although we believed that some of these individuals did not have Toriello-Carey syndrome.…”

Section: Introductionmentioning

confidence: 88%

Toriello–Carey syndrome: Delineation and review

Toriello

Carey

Addor³

et al. 2003

American J of Med Genetics Pt A

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Toriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by Lacombe et al. [1992: Am J Med Genet 42:374-376]. Since then, 11 reports describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history.

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“…Distal limb abnormalities are largely represented by polydactyly and limb hypoplasia but may also be associated with congenital deafness [68] or cardiac anomalies [69,70]. Polydactyly has been described as part of a syndrome of heart defects, laryngeal anomalies and HSCR [70,71] and other autosomal recessive syndromes in siblings [68]. HSCR has been associated with Werner mesomelic dysplasia [72], short stature [73] and the BRESHEK syndrome [74].…”

Section: Intestinal Atresiamentioning

confidence: 99%

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.

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Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello‐Carey or new syndrome?

Cited by 28 publications

References 4 publications

Further delineation of the Toriello‐Carey syndrome: A report of two siblings

Further delineation of the Toriello‐Carey syndrome: A report of two siblings

Toriello–Carey syndrome: Delineation and review

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

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