Anatomical analysis of the developmental effects of aneuploidy in man—the 18‐trisomy syndrome: II. Anomalies of the upper and lower limbs

Ramírez-Castro, J.L.; Bersu, Edward T.; Pettersen, James C.

doi:10.1002/ajmg.1320020309

Cited by 44 publications

(27 citation statements)

References 31 publications

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“…De qualquer forma, não observamos alterações significantes na frequência entre as principais anormalidades de membros observadas. 15 relataram, por meio de um estudo anatomopatológico, as variantes anatômicas de membros encontradas em oito crianças com SE. Os autoFigura 1 -Anormalidades de membros observadas entre os pacientes da amostra res observaram uma influência sobre o desenvolvimento do componente pré-axial dos membros superiores e uma tendência a defeitos de redução.…”

Section: Escore Presenteunclassified

“…As anormalidades observadas incluíram variações musculares concentradas ao longo da margem radial do antebraço e mão, ausência de um nervo musculocutâneo definitivo em todos os membros e reduções da artéria radial. Os autores sugeriram que as anormalidades observadas poderiam ser explicadas através de alguns mecanismos patogenéticos, como defeito no desenvolvimento do nervo periférico e necrose tecidual 15 .…”

Section: Escore Presenteunclassified

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Limb abnormalities on trisomy 18: evidences for early diagnosis

Rosa¹,

Rosa²,

Lorenzen³

et al. 2012

J Pediatr (Rio J)

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Objective: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). Method:The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008. The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings. All the karyotype analysis was performed at the same laboratory.Results: During the study period, 50 patients were identified, 33 (66%) of them females, with ages at the first evaluation ranging from 1 day to 16 years (median 14 days). The single lineage with free trisomy 18 was the most frequent chromosomal disorder (90%). Mosaicism was observed in 10% of the cases. Clenched fist with overlapping fingers was the predominant anomaly of the upper limbs (70%). Other common disorders included the single palmar crease (42%) and hypoplastic nails (36%). Radial abnormalities were found in 11 patients (22%). As for the lower limbs, hypoplastic nails were the most common abnormality (58%), followed by the rocker bottom foot with prominent calcaneus (50%). One patient had unilateral ectrodactyly as well. Conclusions:Despite the classical description, limb anomalies can be much variable in ES. Some patients may show unusual abnormalities, such as radial defects and ectrodactyly. These findings are extremely important for the clinical suspicion and early identification of patients with ES. J Pediatr (Rio J). 2012;88(5):401-5:Chromosomes, human, pair 18, trisomy, chromosome aberrations, extremities. ResumoObjetivo: Verificar a frequência e os tipos de anormalidades de membros observadas entre pacientes com trissomia do cromossomo 18, ou síndrome de Edwards (SE). Método:A amostra foi constituída de pacientes consecutivos avaliados por um serviço de genética clínica no período entre 1975 e 2008. O resultado da análise citogenética, bem como os dados clínicos, foram coletados a partir dos prontuários médicos, dando-se ênfase aos seus achados de membros. Todos foram submetidos ao exame de cariótipo no mesmo laboratório. Resultados:No período de avaliação, foram identificados 50 pacientes, 33 deles (66%) do sexo feminino, com idade na primeira avaliação variando de 1 dia a 16 anos (mediana de 14 dias). A linhagem única com trissomia livre do cromossomo 18 foi a alteração cromossômica predominante (90%). Mosaicismo foi verificado em 10% dos casos. A anormalidade predominante de membros superiores observada na amostra (n = 50) foi o punho cerrado com sobreposição dos dedos (70%). Outras alterações frequentes incluíram a prega palmar única (42%) e a hipoplasia das unhas (36%). Anormalidades radiais foram observadas em 11 pacientes (22%). Quanto aos membros inferiores, a hipoplasia de unhas foi a alteração mais comum (58%), seguida do pé em mata-borrão com calcâneo proeminente (50%). Um dos pacientes possuía ainda ectrodactilia unilateral. Conclusões:Apesar da descrição clássica, as anormalidades de membros...

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Section: Escore Presenteunclassified

Limb abnormalities on trisomy 18: evidences for early diagnosis

Rosa¹,

Rosa²,

Lorenzen³

et al. 2012

J Pediatr (Rio J)

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“…Upper limb malformations, such as aplasia or hypoplasia of the radius and thumb, persistent abnormal positions of the fetal fingers, and a clenched wrist are the most common findings in trisomy 18 [Ramirez-Castro and Bersu, 1978;Sepulveda et al, 1995;Jones, 1997;Lam and Tang, 1999;Makrydimas et al, 2003]. Dysmorphic features have been seen as nonspecific, but facial asymmetry, abnormalities in ear position and formation, micrognathia, high-arched palate, rocker bottom feet, and early death [Singer et al, 1990;Slavotinek et al, 2003] have been frequently reported in patients with trisomy 18.…”

Section: Discussionmentioning

confidence: 99%

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany

Göbbel

Schultka

Klunker

et al. 2005

American J of Med Genetics Pt A

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The Anatomical Collections of the Department of Anatomy and Cell Biology at the University of Halle, Germany, comprise more than 8,000 specimens, about 600 of them congenital anomalies. The collection of abnormal human and animal specimens began with the private collections of Johann Friedrich Meckel the Elder (1724–1774), his son Philipp Friedrich Theodor Meckel (1755–1803), and his grandson Johann Friedrich Meckel the Younger (1781–1833). Meckel the Younger founded the science of developmental pathology in Germany. Radiographical techniques, computer tomographic methods (CT), magnetic resonance imaging (MRI), and molecular cytogenetic techniques, for example, comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel Collection. On examination of one of the human fetuses, originally described by JF Meckel the Younger in 1812 or earlier, we found striking clinical manifestations including mandibulofacial defects and preaxially malformed limbs. With respect to external findings, we propose that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. We used genetic analyses to test whether the observed limb malformations could be caused by aneuploidy. CGH‐ratio profiles of all chromosomes were apparently normal. It is likely that Meckel's specimen is the earliest known fetus with Nager AFD. © 2005 Wiley‐Liss, Inc.

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“…The anatomical variations of the limbs of fetuses with trisomy 18 were well described by Ramirez-Castro and Bersu [2] in 8 fetuses with trisomy 18. Absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group were among the anomalies noted.…”

Section: Discussionmentioning

confidence: 99%

“…Malpositioning of the fingers, or clenched hand, is seen in 50% or more of these fetuses [1]. The anatomical basis for this defect includes muscle variations concentrated along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group [2]. Although the diagnosis of clenched hands can be made by ultrasound [3][4][5], the earliest time in gestation at which this diagnosis can be made is unknown.…”

Section: Introductionmentioning

confidence: 99%

Ontogeny of Clenched-Hand Development in Trisomy 18 Fetuses: A Serial Transabdominal Fetoscopic Observation

Quintero¹,

Johnson

Mendoza

et al. 1999

Fetal Diagn Ther

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Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound.

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Anatomical analysis of the developmental effects of aneuploidy in man—the 18‐trisomy syndrome: II. Anomalies of the upper and lower limbs

Cited by 44 publications

References 31 publications

Limb abnormalities on trisomy 18: evidences for early diagnosis

Limb abnormalities on trisomy 18: evidences for early diagnosis

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany

Ontogeny of Clenched-Hand Development in Trisomy 18 Fetuses: A Serial Transabdominal Fetoscopic Observation

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