Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology

Zeng, Zhen; Yi, Dan; Xie, Rong; Hamilton, John; Kang, Qinglin; Chen, Di

doi:10.1111/nyas.13440

Cited by 8 publications

(9 citation statements)

References 101 publications

(191 reference statements)

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“…Identification of the evolutionarily conserved PelB hind limb enhancer in the Pitx1 gene will facilitate additional studies of limb development in a wide range of vertebrate species. For example, hind limb and patellar abnormalities are relatively common in humans ( Bongers et al, 2005 ; Zhang et al, 2017 ; Basit and Khoshhal, 2018 ). The sequence of the PelB region can now be examined for base pair changes, insertions, deletions, or copy number differences that may contribute to morphological traits or disease phenotypes in humans.…”

Section: Discussionmentioning

confidence: 99%

A novel enhancer near the Pitx1 gene influences development and evolution of pelvic appendages in vertebrates

Thompson

Capellini

Guenther

et al. 2018

eLife

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Vertebrate pelvic reduction is a classic example of repeated evolution. Recurrent loss of pelvic appendages in sticklebacks has previously been linked to natural mutations in a pelvic enhancer that maps upstream of Pitx1. The sequence of this upstream PelA enhancer is not conserved to mammals, so we have surveyed a large region surrounding the mouse Pitx1 gene for other possible hind limb control sequences. Here we identify a new pelvic enhancer, PelB, that maps downstream rather than upstream of Pitx1. PelB drives expression in the posterior portion of the developing hind limb, and deleting the sequence from mice alters the size of several hind limb structures. PelB sequences are broadly conserved from fish to mammals. A wild stickleback population lacking the pelvis has an insertion/deletion mutation that disrupts the structure and function of PelB, suggesting that changes in this ancient enhancer contribute to evolutionary modification of pelvic appendages in nature.

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Section: Discussionmentioning

confidence: 99%

A novel enhancer near the Pitx1 gene influences development and evolution of pelvic appendages in vertebrates

Thompson

Capellini

Guenther

et al. 2018

eLife

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“…Otras causas incluyen agentes teratogénicos (talidomi-da, exceso de vitamina A), drogas ilícitas (cocaína, alcohol), diabetes mellitus, exposición a radiación y anomalías cromosómicas fetales (trisomía 18) (5,7,8) . Además de la talidomida como agente causal, existe evidencia de un patrón de herencia autosómica recesiva con marcada variabilidad de la expresión fenotípica (mutación del rasgo autosómico recesivo vinculado al cromosoma 8) (9) . En la actualidad, y excluyendo la posible consanguinidad entre los padres, la exposición a la radiación durante el primer trimestre parece ser la causa más probable de las alteraciones osteomusculares.…”

Section: Discussionunclassified

Diagnóstico prenatal de tetrafocomelia fetal

Torres-Cepeda

Rondón-Tapía

2021

Rev peru ginecol obstet.

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Los defectos musculoesqueléticos de las extremidades fetales son raros. Las causas de estas anomalías incluyen síndrome de banda amniótica, exposición a agentes teratogénicos, consumo de drogas ilícitas, diabetes y herencia autosómica recesiva. La tetrafocomelia es una malformación musculoesquelética congénita rara caracterizada por agenesia total o parcial de los huesos largos de las extremidades, haciendo que las manos y los pies surjan directamente del tronco fetal. Su incidencia es de 0,62 casos por cada 100.000 nacidos vivos. Puede ocurrir como un defecto aislado, pero en ocasiones también puede asociarse con malformaciones craneofaciales y otras anomalías sistémicas. La evaluación ecográfica prenatal permite realizar el diagnóstico temprano de todas las alteraciones fetales, incluyendo la mayoría de las malformaciones musculoesqueléticas, Este debe realizarse en forma meticulosa e interpretarse con cautela, ya que debe buscarse la presencia de otras anomalías sistémicas asociadas. Se reporta un caso de diagnóstico prenatal de tetrafocomelia.

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“…Fibular hemimelia (FH) is part of a broad spectrum of lower-limb deformities that include partial or total absence of the fibula, associated with other abnormalities (Figure 1), including reduced length of the affected limb, angular deformities, ball-and-socket ankle joint, tarsal anomalies, absent lateral rays of the foot, short femur, and occasionally, hand anomalies (1)(2)(3)(4) .…”

Section: Introductionmentioning

confidence: 99%

“…It is a rare deformity, with an incidence ranging from 7.4 to 49 cases per 1,000,000 live births (1,4,5) . The etiology is still unknown, and most cases occur in the absence of a family history of birth defects.…”

Section: Introductionmentioning

confidence: 99%

“…Bilateral HF is the exception, as it often represents an autosomal dominant condition (2) . The classification described by Achterman and Kalamchi (6) in 1979 divided FH into 2 types, according to its anatomical and radiographic characteristics (1,6,7) . More recently, Paley's classification became the first one developed specifically to provide surgical options for reconstruction (1) .…”

Section: Introductionmentioning

confidence: 99%

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The SUPERankle procedure in the treatment of foot and ankle deformities in fibular hemimelia

et al. 2021

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Objective: To review indications for limb amputation or reconstruction using the SUPERankle procedure in patients diagnosed with Paley type 3 or 4 fibular hemimelia; To evaluate the correction of deformities needed to achieve a stable plantigrade foot, review variations of the original technique and their applicability, and describe challenges encountered in their execution. Methods: Qualitative, retrospective, descriptive study of 4 patients who underwent the SUPERankle procedure between 2019 and 2020 for treatment of foot and ankle deformities in fibular hemimelia. Pre- and postoperative clinical and radiographic evaluations were performed to identify objective evidence of the correction of foot and ankle deformities. The operative techniques employed are described. Results: The included patients met anatomical and psychosocial criteria for reconstruction, as established in the literature. Clinical correction of foot and ankle deformities was achieved, but on radiographic evaluation, there was no statistical difference; this was likely due to the small number of patients, given the rarity of fibular hemimelia. Conclusion: The procedure is reproducible, but requires a knowledgeable, well-trained surgical team. Correction of foot and ankle deformities can be achieved. The choice between amputation or reconstruction should be the result of an informed decision by Family members, supported by a multidisciplinary team. Level of Evidence IV; Qualitative Study; Case Series.

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Postaxial limb hypoplasia (PALH): the classification, clinical features, and related developmental biology

Cited by 8 publications

References 101 publications

A novel enhancer near the Pitx1 gene influences development and evolution of pelvic appendages in vertebrates

A novel enhancer near the Pitx1 gene influences development and evolution of pelvic appendages in vertebrates

Diagnóstico prenatal de tetrafocomelia fetal

The SUPERankle procedure in the treatment of foot and ankle deformities in fibular hemimelia

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