Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?

Ferrero, Giovanni Battista; Valenzise, Mariella; Franco, Brunella; Defilippi, Claudio; Gregato, Giuliana; Corsello, Giovanni; Pepe, Ernesto; Silengo, Margherita

doi:10.1002/ajmg.10815

Cited by 8 publications

(2 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Findings include midline cleft involving the palate, vomer, ethmoid, and crista galli; apophysis and vertebral malformations including fusion of vertebral arches in C1, C2, and C3, and clefts of vertebral bodies in a sporadic male patient [Gabrielli et al, 1994]. A subsequent report of OFDS with vertebral anomalies in a female patient confirmed the existence of this variant [Ferrero et al, 2002].…”

Section: Types Of Oral–facial–digital Syndromesmentioning

confidence: 99%

Oral–facial–digital syndromes: Review and diagnostic guidelines

Gurrieri

Franco

Toriello

et al. 2007

American J of Med Genetics Pt A

Self Cite

137

139

View full text Add to dashboard Cite

The oral-facial-digital syndromes (OFDS) result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed.

show abstract

Section: Types Of Oral–facial–digital Syndromesmentioning

confidence: 99%

Oral–facial–digital syndromes: Review and diagnostic guidelines

Gurrieri

Franco

Toriello

et al. 2007

American J of Med Genetics Pt A

Self Cite

137

139

View full text Add to dashboard Cite

show abstract

“…Vertebral cleft of thoracic or lumbar vertebra noticed randomly in imaging (Figure 4b) Cleft in thoracic vertebras can be concomitant part of multiple anomalies [34,35]. Totally of lumbar vertebral arch may absent and may be part of lumbosacral spina bifida [36].…”

Section: Developmental Embryology and Molecular Regulations Of Spina mentioning

confidence: 99%

Spina Bifida: Morphological Features, Molecular Regulations and Signal Pathways

Başaloğlu¹,

Çelik²,

Kılıç³

et al. 2017

J Spine

View full text Add to dashboard Cite

The main aim of this article is to review the knowledge about the closure defect of the vertebral column calls spina bifida. The anatomic, embryologic and molecular biologic knowledge about this condition is reevaluated with checking the contentful dry bone collection. Determined spina bifida samples, types in any part of vertebral column reviewed under the light of increasing recent literature. The review also gives attention to the cervical, thoracic regional, anterior and partial closure defect possibilities and clinical conditions, which are not emphasized adequately and are thought as a separate case status but are severe or mild types of spina bifida. Most common sites, especially sacral region of spina bifida and present incidence in different nations assessed and compared with our dry bone series. Regional incidence, types and clinical conditions of spina bifida reviewed under the light of the recent embryologic and molecular biologic studies. This review will give tidy think and aspect of morphology and clinics of spina bifida throughout of the vertebral column. Definition and Background of Spina BifidaSpina bifida means split spine [1]. It occurs when the spinal column does not close all of the ways or spinal column has closing alterations during gestation [2]. In the USA, about 1500 babies are born with spina bifida or brain and spine defects every year. It makes this the most common permanently disabling birth defect [3]. Because of a developmental abnormality of the spinal cord in the first trimester of pregnancy, spina bifida happens [4]. Anatomy of the vertebra, vertebral canal, contents and surrounding tissue is important for understand of embryologic development of spina bifida. Spina bifida emerges as a result of the non-closure of the upper part of the neural tube during embryonal development. It is classified into two main groups: open and closed spina bifida. The reason underlying it is not clearly understood. It is thought to arise as a result of genetic and environmental factors. Various other reasons which are unknown today are also thought to be effective.We checked literature of vertebral anomalies, malformations and clinical conditions including spina bifida. A number of clinical studies have been published in the literature on the closure defect in one part of the vertebral canal and many gross clinical cases of neonate have been reported. Life-incompatible types of spina bifida are frequently mentioned by many authors. In addition, many anatomical studies have been done on dry bone of the sacral canal closure defects. The review gives attention to the cervical, thoracic regional, anterior and partial closure defect possibilities and clinical conditions which are not much emphasized and are thought as a separate case status but are severe or mild types of spina bifida. Regional incidence, types and clinical conditions of spina bifida reviewed under the light of the recent embryologic and molecular biologic studies. This review will give ordinate think and aspect of morphology...

show abstract

Oral–Facial–Digital Syndrome

大平¹

2012

Atlas of Genetic Diagnosis and Counseling

View full text Add to dashboard Cite

Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?

Cited by 8 publications

References 9 publications

Oral–facial–digital syndromes: Review and diagnostic guidelines

Oral–facial–digital syndromes: Review and diagnostic guidelines

Spina Bifida: Morphological Features, Molecular Regulations and Signal Pathways

Oral–Facial–Digital Syndrome

Contact Info

Product

Resources

About