Limb abnormalities on trisomy 18: evidences for early diagnosis

Abstract

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...

Ruptured omphalocele mimicking gastroschisis in a fetus with edwards syndrome

“…The main alteration is the clenched fist with overlapping fingers, a finding that usually leads to the suspicion of the syndrome. Radial abnormalities, as observed in our case, are less common, seen in about 22% of patients [Rosa et al, ].…”

Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

“…In comparison with previously reported cases due to MED12 R296Q ( Caro-Llopis et al, 2016 ; Martínez et al, 2017 ; Rocchetti et al, 2021 ) and clinical features summarized by Plassche and Brouwer (2021) , the pattern of fetal clenched hand with overlapping fingers and clubfoot is reported for the first time in our study. However, among the types of fetal hand and foot abnormalities, overlapping fetus fingers are characteristic phenotypes of fetuses carrying aneuploidy, such as trisomies 18, 13, and 21 ( Witters et al, 2011 ; Rosa et al, 2012 ), which are usually diagnosed by prenatal chromosome screening. Clinicians are often unable to provide clear decision-making advice when chromosome results are unclear, such as low-risk NIPT results or karyotype analysis is negative.…”

A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM)

“…13 Mortality in patients with trisomy 18 is mostly due to respiratory or heart failure, although recent studies found little or no association of congenital heart defects with survival rate. 14 Our patient was referred at the age of 4 months, where the survival rate varies between 3 to 23 percent based on studies from different countries. 15 A multi-state population-based study recently revealed gestational age as the strongest predictor of mortality, with highest 1-month and 1-year survival probabilities of trisomy 18 infants born at full term (48.8 and 17.2 percent, respectively).…”