The Limbs

Ferretti, Patrizia; Tickle, Cheryll

doi:10.1002/9780470090121.ch7

Cited by 3 publications

(4 citation statements)

References 255 publications

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“…The fact that the present fetus displayed all of these findings expands the clinical spectrum and provides new insight into the severity of expression of malformations in CMNS. It must be noted that both limb body wall and caudal dysgenesis complexes share several CMNS-related features, namely lumbosacral, genitourinary, gastrointestinal, and lower limb abnormalities [6–8, and references therein]. Moreover, extrauterine survival depends on the severity of associated visceral malformations [6].…”

Section: Discussionmentioning

confidence: 99%

“…Despite this, several gene families, such as SHH, TBOX, PAX, WNT, TGF-beta/BMP , and HOX (including HOXD13 and HLXB9 ), are involved in a complex and interacting network of signaling pathways and play key roles in the patterning and organogenesis as early as in the embryonic disc stage. Perturbations of these genes have been associated with Limb–Body wall and caudal dysgenesis complexes, Currarino syndrome, and VACTERL/VACTERL-H phenotype (among others disorders) in animal or human genetic studies [6–8, and references therein]. Accordingly, CMNS may be an underrecognized disorder, given the complex involvement of the anteroposterior and dorsoventral axes as well as genitourinary and gastrointestinal development.…”

Section: Discussionmentioning

confidence: 99%

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Fetus with Casamassima-Morton-Nance Syndrome and Limb–Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype

Salinas‐Torres¹

2016

Pediatr Dev Pathol

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In 1981, Casamassima and colleagues described an autosomal recessive syndrome of spondylocostal dysostosis associated with anal and urogenital anomalies. Here, I describe 1 new fetus who presented with limb-body wall defect as a novel association, compile 7 patients, and review the clinical phenotype of Casamassima-Morton-Nance syndrome. This appears to be the 1st Casamassima-Morton-Nance syndrome fetus with this complex malformation. In light of this manifestation, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with significant clinical variability. Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and vertebral anomalies and scoliosis (spondylocostal-like pattern), anal atresia, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Fetus with Casamassima-Morton-Nance Syndrome and Limb–Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype

Salinas‐Torres¹

2016

Pediatr Dev Pathol

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“…In 1974 Holmes suggested the term inborn errors of morphogenesis; whereas, Epstein (1978) suggested the term inborn errors of development in analogy (or parology) to Garrard's inborn errors of metabolism (Epstein et al, 2004) for certain congenital anomalies. Subsequent work linking genetics to development (Thorogood, 1997; Carroll et al, 2001, 2005; Mooney and Siegel, 2002; Epstein et al, 2004; Ferretti et al, 2006; Gilbert, 2006; Vieira, 2008) has shown the importance of this idea of pathways in development assembled into cassettes and directed by regulatory genes, including in the developmental genetics of clefts.…”

Section: Discussionmentioning

confidence: 99%

Growth in Children with Clefts: Serial Hand-Wrist X-Ray Evidence

Bowers

2011

The Cleft Palate-Craniofacial Journal

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Boys and girls with cleft palate show different maturational patterns, supporting a sex influence on the etiologies of at least some of these anomalies. Boys with unilateral cleft lip and palate and bilateral cleft lip and palate have different maturational patterns, consistent with these anomalies having different sets of etiological factors. Girls with unilateral cleft lip and palate almost always have advanced skeletal ages; whereas, boys sometimes do not. These results support the need for keeping both sex and diagnostic categories separate when conducting etiological searches.

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“…The pace of discovery in clinical genetics has been spectacular. In 1996 just seven genes associated with human limb defects were known, but by 2006 this number had risen to 37 (Ferretti and Tickle, 2006). It is also worth noting that studies on chick embryos have contributed to understanding the functions of many of these genes and thus provided insights into the mechanisms that lead to congenital malformations in human patients.…”

Section: Links With Clinical Geneticsmentioning

confidence: 99%

The chicken as a model for embryonic development

Davey

Tickle

2007

Cytogenet Genome Res

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The traditional strength of chicken embryos for studying development is that they are readily manipulated. This has led to some major discoveries in developmental biology such as the demonstration that the neural crest gives rise to almost the entire peripheral nervous system and the identification of signalling centres that specify the pattern of structures in the central nervous system and limb. More recently with the burgeoning discovery of developmentally important genes, chicken embryos have provided useful models for testing function. Uncovering the molecular basis of development provides direct links with clinical genetics. In addition, since many genes that have crucial roles in development are also expressed in tumours, basic research on chickens has implications for understanding human health and disease. Now that the chicken genome has been sequenced and genomic resources for chicken are becoming increasingly available, this opens up opportunities for combining these new technologies with the manipulability of chicken embryos and also exploiting comparative genomics.

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The Limbs

Cited by 3 publications

References 255 publications

Fetus with Casamassima-Morton-Nance Syndrome and Limb–Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype

Fetus with Casamassima-Morton-Nance Syndrome and Limb–Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype

Growth in Children with Clefts: Serial Hand-Wrist X-Ray Evidence

The chicken as a model for embryonic development

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