Warkany Syndrome: A Rare Case Report

Agrawal, Amit; Agrawal, R. C.

doi:10.1155/2011/437101

Cited by 17 publications

(10 citation statements)

References 3 publications

(3 reference statements)

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“…Cranio-facial findings include scaphocephaly, prominent forehead, hypertelorism, deep-set eyes, a broad upturned nose, micro-retrognathia, low-set ears, large dysplastic ears, corneal opacity, and strabismus. Additionally, patellar aplasia-hypoplasia, corpus callosum agenesis, restricted articular function, vertebral fusions, bilateral camptodactyly, deep palmo-plantar creases, long and slender body habitus, narrow shoulders and pelvis, hypospadias, bilateral undescended testis, small penis, and diffuse hyperpigmentation with hypopigmented patches are also described [1,5,[8][9][10][11][12]. In our case, the patient had a dysmorphic facial appearance, widely spaced nipples, deep palmar and plantar creases, an ectopic right kidney, mild skeletal abnormalities, and hypopigmented appearance in the palmo-plantar regions, with a demarcation line.…”

Section: Discussionmentioning

confidence: 99%

Trisomy 8 Mosaicism Syndrome with Pigmentation Anomalies: A Case Report

Balasar¹,

Oltulu²

2017

Pigmentary Disorders

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Trisomy 8 Mosaicism syndrome, also known as Warkany syndrome 2, is a rare genetic event with an estimated frequency of about 1:25,000 to 1:50,000 births. Complete trisomy 8 is usually lethal, causing 0.70% of first-trimester abortions. However, mosaic trisomy 8 syndrome has extremely variable phenotypes, with a wide range of clinical manifestations, including cranio-facial dysmorphism, mild to severe intellectual disability, multiple skeletal abnormalities, deep palmar-plantar creases, and cardiac-renal abnormalities. A few cases of skin pigmentary anomalies have also been reported. We report on a 36 year old male case with mosaic trisomy 8. He has mild clinical findings and palmo-plantar hypopigmentation, which appears as a demarcating line between his hands' dorsal and palmar regions. We report this case to investigate palmo-plantar pigmentation anomalies.

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Section: Discussionmentioning

confidence: 99%

Trisomy 8 Mosaicism Syndrome with Pigmentation Anomalies: A Case Report

Balasar¹,

Oltulu²

2017

Pigmentary Disorders

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Section: Discussionmentioning

confidence: 99%

“…Trisomy 8 is usually lethal and occurs in 0.8% of spontaneous pregnancy losses [Agrawal and Agrawal, 2011]. Although CT8M is compatible with life, it has extremely variable phenotypes ranging from normal features to severe malformations [Alkuraya and Harris, 2005;Agrawal and Agrawal, 2011]. Complete trisomy 8 is thought to result from meiotic nondisjunction, whereas CT8M is thought to result from a post-zygotic event [Karadima et al, 1998;Alkuraya and Harris, 2005].…”

Section: Discussionmentioning

confidence: 99%

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis

Altıner

Kutlay²,

İlhan³

2016

Cytogenet Genome Res

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Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.

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“…It can occur with or without mosaicism. T8M is a human chromosomal disorder caused by three copies (trisomy) of (Agrawal & Agrawal 2011).…”

Section: Discussionmentioning

confidence: 99%