Symbrachydactyly

Goodell, P. B.; Bauer, Andrea S.; Sierra, Francisco Javier Aguilar; James, Michelle A.

doi:10.1177/1558944715614857

Cited by 18 publications

(23 citation statements)

References 62 publications

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“…In an atypical cleft hand, the central parts, including metacarpals, phalanges, and musculotendinous elements are characteristically absent, and the border digits are hypoplastic. The thumb is mostly preserved in patients with atypical cleft hand [3], [4]. The present case is consistent with the atypical cleft hand in terms of its sporadic nature, its unilaterality, the preservation of the ectodermal units and the deficiency of the central parts.…”

Section: Discussionsupporting

confidence: 87%

Atypical cleft hand with complex syndactyly: An unusual form of hand oligodactyly

Özdemir

Kavak

Karacif

et al. 2019

Radiology Case Reports

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Hand oligodactyly refers to a developmental defect which results in the presence of less than 5 digits on a hand. It presents as a component of 4 main categories of congenital upper limb malformations. Herein, we present a 50-year-old man with an unusual form of hand oligodactyly which is characterized by atypical cleft hand accompanied by complex syndactyly between the thumb and the index finger. Accurate characterization of hand oligodacticity can sometimes be challenging due to unusual phenotypic appearances accompanying the abnormality. Radiological evaluation is of great importance for correct identification and classification of such complex hand anomalies, and the treatment should be highly individualized in these patients.

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Section: Discussionsupporting

confidence: 87%

Atypical cleft hand with complex syndactyly: An unusual form of hand oligodactyly

Özdemir

Kavak

Karacif

et al. 2019

Radiology Case Reports

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“…Other syndromes that may be associated with symbrachydactyly are Moebius, Adams-Oliver, amniotic band disruption, del 22q11.2 and Turner (45,X) [ 10 ]. Additionally, a congenital defect such as Apert syndrome which manifests as syndactyly, acrocephaly and mutation on fibroblast growth factor receptor −2 (FGFR2) is a differential diagnosis of symbrachydactyly [ 4 ]. Therefore, fetal anomaly screening is essential for early detection and management.…”

Section: Discussionmentioning

confidence: 99%

“…Hypodactyly is unilateral absence or rudimentary bulbous finger(s) without a terminal ectodermal component [ 3 ]. This is different from symbrachydactyly, which is usually unilateral and the rudimentary digit nubbin contains any of cartilage, bone and nail plate [ 4 ]. However, symbrachydactyly is used as an umbrella term that includes hypodactyly [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…This is different from symbrachydactyly, which is usually unilateral and the rudimentary digit nubbin contains any of cartilage, bone and nail plate [ 4 ]. However, symbrachydactyly is used as an umbrella term that includes hypodactyly [ 4 ]. The classification of the International Federation of Societies for Surgery of the Hand (IFSSH), which is the most popular [ 5 ], enlists symbrachydactyly [ 6 ] and not hypodactyly.…”

Section: Introductionmentioning

confidence: 99%

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Improving prenatal detection of congenital hand defects through collaborative goal-directed antenatal care: a case report on symbrachydactyly

Ngene

Chauke

2020

Case Reports in Women's Health

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Background Prenatal ultrasonography for the detection of fetal structural anomaly is an important component of antenatal care. During the assessment, proximal limb deformities are readily diagnosed. Distal limb, especially digit, abnormalities, however, may be difficult to detect, particularly if the ultrasonography is performed in the third trimester, and the deformity is unilateral and isolated. Case A 24-year-old primigravida booked for antenatal care with a general practitioner had threatened miscarriage at 12 weeks of gestation, and at 34 weeks was referred to an obstetrician for further care and delivery. The growth ultrasonographic examination was normal but at 40 weeks of gestation she developed antepartum haemorrhage of unknown origin. She had a caesarean delivery and a female baby with “rudimentary” left fingers (“isolated symbrachydactyly”) was delivered. The parents were counselled and they declined further assessment of the baby by a hand surgeon and a clinical geneticist. At 3 years of age, the baby had normal development and “is using her hand even without fingers,” according to the mother. Conclusion Collaborative goal-directed antenatal care that involves different categories of healthcare professionals, but particularly a certified sonologist who performs fetal anomaly ultrasonography, is essential for the detection of congenital hand defects. Adequate counselling is essential for the satisfaction of the baby's family.

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“…Por lo general, los dígitos centrales están ausentes, y los dígitos del borde están relativamente a salvo, y puede haber sindactilia. 4 El mejor candidato para este procedimiento parece ser un paciente con una envoltura cutánea adecuada para acomodar la falange transferida, buen desarrollo del metacarpiano, y tendones flexores y extensores intactos, como lo demuestran las protuberancias digitales retráctiles cuando se distraen suavemente. 5 El objetivo principal es mejorar la longitud digital para mejorar la ventaja mecánica y la prensión.…”

Section: Introductionunclassified

Free Non-vascularized Toe Phalangeal Transfers in Symbrachydactyly: Outcome Analysis

Sapage

Rosa

Pereira

et al. 2020

Revista Iberoamericana de Cirugía de la Mano

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Introduction Free nonvascularized toe phalangeal transfer is an established surgical option for the reconstruction of hypoplastic digits. The purpose of the present study was to evaluate our experience with this procedure and to assess bone growth and digit function as well foot morbidity. Material and Methods We retrospectively evaluated the clinical records for all children with symbrachydactyly submitted to free nonvascularized toe phalangeal transfer between 2002 and 2017. A total of 8 patients were included. We summoned the patients to an appointment to clinically assess the range of motion, the stability, and the alignment of the neo-joint. We radiographically measured the final length and the expected percentage of growth of the transferred phalanx. We also evaluated the foot for comorbidities. Results The mean age at the time of the first surgery was 19 months (range: 8–42 months). A total of 20 phalanges were harvested: 16 total proximal phalanges, 2 middle phalanges, 1 subtotal proximal phalanx, and 1 accessory thumb phalanx. The distal part of one proximal phalanx was trimmed because the skin pocket was too tight. Two patients underwent a secondary procedure to release the syndactyly. One transfer required revision surgery due to distal tip necrosis and exposition of the transferred phalanx. In the present series, the overall clinical and radiographic outcomes were compatible to those reported in other studies. Discussion The main limitation of the nonvascularized toe phalanx transfer is the preexisting soft tissue envelope of the finger and the limited growth potential of the transferred bone. Conclusion Irrespective of the amount of growth achieved in the transferred phalanx, the actual transfer and growth attained should not be viewed as the end result, but rather as a means of providing a stable and functional joint.

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Symbrachydactyly

Cited by 18 publications

References 62 publications

Atypical cleft hand with complex syndactyly: An unusual form of hand oligodactyly

Atypical cleft hand with complex syndactyly: An unusual form of hand oligodactyly

Improving prenatal detection of congenital hand defects through collaborative goal-directed antenatal care: a case report on symbrachydactyly

Free Non-vascularized Toe Phalangeal Transfers in Symbrachydactyly: Outcome Analysis

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