Bilateral absence of the ulna in 4q terminal deletion syndrome

Meaux, Tyson; Zeringue, Amy; Mumphrey, Christy; Barkemeyer, Brian; Marble, Michael

doi:10.1097/mcd.0000000000000078

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…The great variability and severity of congenital malformations and disorders related to the 4q deletion have been reported to affect different organs and in most cases the anomalies are complexes with various organs and body areas involved in the associations. Anomalies have been reported affecting the brain (ventriculomegaly, cortical atrophy and prominent ventricles, large occipital encephalocele) [12][13][14], eyes (bilateral hypermetropia, pigmentary retinal degeneration, microphthalmia) [15][16][17][18], cleft palate and Pierre Robin syndrome [3,5,7,[19][20][21], heart (enlarged right atrium and ventricle, small atrial septal defect, abnormal structure and function of both ventricles and double inferior vena cava, coarctation of the aorta and interventricular communication, both valvar pulmonic stenosis, cor triatriatum) [3,8,[22][23][24], kidneys (duplicated left intrarenal collecting system, polycystic kidney, bilateral extrarenal pelvis dysplastic cystic kidneys) [3, 9, 24-26], genital defects [27], limb development disorder (irregularity of the outline of the distal phalanx of the 4th digit, rudimentary left thumb with absence of right thumb, bilateral absence of ulna) [28][29][30][31]. Craniofacial dysmorphism has frequently been reported with signs that are not speci cally diagnostic [32][33][34][35][36], as well cognitive involvement [17,[37][38][39][40][41], de cit of growth [25,34] and epileptic seizures [22,…”

Section: Discussionmentioning

confidence: 99%

“…In a subsequent report, Strehle et al [7] noted that, although variable, the common spectrum of malformations in 4q deletion syndrome typically includes craniofacial, DD, digital, skeletal and cardiac anomalies. In this syndrome, other anomalies have been reported such as bilateral thumbs anomalies, left side hypoplasia, bilateral ptosis [2][3], erythroderma [29], ocular [18] and hearing impairment [42], ulnar defects [30][31] and occipital encephalocele [14].…”

Section: Similaritymentioning

confidence: 99%

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Clinical comparison between terminal and interstitial 4q deletion in two unrelated children

Pappalardo

Lubrano

Verrotti

et al. 2022

Preprint

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Background. The term “4q deletion syndrome” is defined to include two different regions: an interstitial sequence deleted from the centromere to 4q31 and a terminal deletion from 4q31 to 4qter. Objective. To compare clinical similarities and differences between two unrelated children of the same age observed during the same time period by the same Center, one presenting with a 4q interstitial deletion, the other with a terminal 4q deletion. The clinical manifestations were compared. Cases Presentation. Clinical manifestations observed in two children from the infancy to the age of 7 years included: craniofacial features, pre- and postnatal growth failure, and speech and developmental delay. Case 1 showed a terminal 4q deletion of about 329.6 Kb extending from 164.703.186 to 165.032.803 nt, Case 2 displayed an interstitial 4q deletion 600.3 Kb long spanning from 71.655.407 to 78.016.622 nt. Results. Growth retardation, craniofacial features, mild developmental delay and notable speech delay. were reported in both the probands. Precocious crowded dentition was observed in Case 1 and an accessory spleen in Case 2. Conclusion. Patients with 4q deletion syndrome although sharing main features, exhibited varying clinical manifestations depending on the area and location of the deletion. Similarity and diversity reported for the probands are analyzed. An extensive review of the 4q deletion syndrome is reported.

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Section: Discussionmentioning

confidence: 99%

Section: Similaritymentioning

confidence: 99%

Clinical comparison between terminal and interstitial 4q deletion in two unrelated children

Pappalardo

Lubrano

Verrotti

et al. 2022

Preprint

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“…At least a dozen individuals with this defect have been reported so far. Meaux et al (2015) presented their patient with bilateral absence of ulnae and ∼ 22 Mbp terminal deletion of 4q32.3-4qter. The authors reasonably suggest that a 17.7 Mbp segment of 4q (171 230 000-188 987 971) has to contain a gene, which (when deleted) causes this abnormality.…”

mentioning

confidence: 98%

A critical region for ulnar defects in patients with 4q deletions may be narrowed

Lurie¹

2016

Clinical Dysmorphology

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The absence (or hypoplasia) of ulnar bones and associated ulnar oligodactyly are uncommon but very specific manifestations of distal deletions 4q. At least a dozen individuals with this defect have been reported so far. Meaux et al. (2015) presented their patient with bilateral absence of ulnae and ∼ 22 Mbp terminal deletion of 4q32.3-4qter. The authors reasonably suggest that a 17.7 Mbp segment of 4q (171 230 000-188 987 971) has to contain a gene, which (when deleted) causes this abnormality. A search of DECIPHER revealed no cases of 4q-related ulnar agenesis (or ulnar hypoplasia).

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A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1

et al. 2021

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The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of MARCH1 (membrane associated ring-CH-type finger 1) gene (OMIM#613331). Same rearrangement was found in his healthy mother. Clinical phenotype of the child and its relationship to the deleted region is presented with a revision of the cases having the same copy number losses from the literature and genomic variant databases.

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Bilateral absence of the ulna in 4q terminal deletion syndrome

Cited by 3 publications

References 10 publications

Clinical comparison between terminal and interstitial 4q deletion in two unrelated children

Clinical comparison between terminal and interstitial 4q deletion in two unrelated children

A critical region for ulnar defects in patients with 4q deletions may be narrowed

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1

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