Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

Gurrieri, Fiorella; Everman, David B.

doi:10.1002/ajmg.a.36239

Cited by 57 publications

(89 citation statements)

References 115 publications

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“…Both forms were frequently found to be associated with chromosomal rearrangements such as deletions or translocations involving7q21q22. Besides the ectrodactyly-ectodermal dysplasia-cleft syndrome, many other syndromes including SHFM have been described [Gurrieri and Everman, 2013]. This study reports a syndromic form of SHFM1 in a patient associated with a microdeletion of the sub-band 7q21.3, which was confirmed by FISH using BAC clones and array CGH.…”

confidence: 52%

“…It is characterized by the absence of central digital rays with syndactyly of the remaining digits, deep median cleft, and aplasia or hypoplasia of the phalanges, metacarpals and metatarsals [Scherer et al, 1994b]. The overall prevalence of SHFM is ∼ 1/8,500-25,000 newborns accounting for 8-17% of all limb reduction defects [Gurrieri and Everman, 2013].…”

confidence: 99%

“…Around 40% of individuals presenting with SHFM have associated non-limb congenital anomalies that include intellectual disability (ID), cleft palate and ectodermal dysplasia. The disorder is genetically heterogeneous involving several loci including 7q21.3, Xq26, 10q24, 3q27, 2q31, and 12q13 [Gurrieri and Everman, 2013;Sowińska-Seidler et al, 2014].…”

confidence: 99%

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Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report

Sivasankaran¹,

Srikanth²,

Kulshreshtha³

et al. 2015

Mol Syndromol

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Split hand/foot malformation (SHFM) or ectrodactyly is a rare genetic condition affecting limb development. SHFM shows clinical and genetic heterogeneity. It can present as an isolated form or in combination with additional anomalies affecting the long bones (nonsyndromic form) or other organ systems including the craniofacial, genitourinary and ectodermal structures (syndromic ectrodactyly). This study reports a girl with SHFM who also exhibited developmental delay, mild dysmorphic facial features and sensorineural hearing loss. High-resolution banding analysis indicated an interstitial deletion within the 7q21 band. FISH using locus-specific BAC probes confirmed the microdeletion of 7q21.3. Chromosomal microarray analysis also revealed a microdeletion of 1.856 Mb in 7q21.3. However, a larger 8.44-Mb deletion involving bands 7q21.11q21.2 was observed, and the breakpoints were refined. The phenotype and the candidate genes underlying the pathogenesis of this disorder are discussed.

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confidence: 52%

confidence: 99%

See 1 more Smart Citation

Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report

Sivasankaran¹,

Srikanth²,

Kulshreshtha³

et al. 2015

Mol Syndromol

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“…The molecular basis is known for less than 40% of the disorders listed in OMIM. Even for many of the disorders for which a genetic defect is known, there is evidence for genetic locus heterogeneity, with genes remaining to be discovered (split-hand/foot [183600] 16 [188770,275220]; and split-hand/foot with varying combinations of brachydactyly, triphalangeal thumbs, and nail dysplasia [106990,190680,106995,106900]). The heterogeneity of the LDDs is more extensive than the number of OMIM entries might suggest, as many cases do not fit well into any described syndrome.…”

Section: Transverse Deficiencymentioning

confidence: 99%

Congenital Limb Deficiency Disorders

Wilcox¹,

Coulter²,

Schmitz³

2015

Clinics in Perinatology

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“…The malformation is rare, occurring in 1 in 8,500-25,000 newborns. It is associated with various genetic abnormalities [ 88 ]. Although it may occur in isolation, split foot is also seen with more than 75 different syndromes.…”

Section: Split Footmentioning

confidence: 99%

The Foot and Ankle: Congenital and Developmental Conditions

Hammer

Pai

2014

Pediatric Orthopedic Imaging

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The radiographic evaluation of congenital and developmental abnormalities of the foot and ankle provides critical information to guide orthopedic treatment. This chapter begins by discussing the anatomy and normal variants of the ankle. Congenital and developmental abnormalities of the ankle are explored, including ball-and-socket ankle. The development and normal variants of the pediatric foot are then discussed. After describing radiographic techniques for imaging the foot, the chapter presents methods to evaluate and vocabulary to describe foot alignment. This is then applied to a broad spectrum of structural deformities of the foot, including clubfoot, cavus deformity, and multiple types of fl atfoot (including tarsal coalition). A discussion of forefoot alignment follows, and the chapter concludes with a brief discussion of congenital foot malformations.In order to provide useful interpretations of foot and ankle radiographs, the radiologist must have a thorough knowledge of the many normal variants that affect this area, recognizing those that may mimic or obscure pathology. Analysis of alignment requires a careful, systematic approach, along with a clear understanding of normal alignment, the wide variety of possible deformities, and the many ways they may combine to create unique constellations of pathology.

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Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

Cited by 57 publications

References 115 publications

Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report

Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report

Congenital Limb Deficiency Disorders

The Foot and Ankle: Congenital and Developmental Conditions

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