Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

Mbuyi-Musanzayi, Sébastien; Lumaka, Aimé; Asani, Bienvenu Yogolelo; Kasole, Toni Lubala; Lukusa-Tshilobo, Prosper; Muenze, Prosper Kalenga; Katombe, François Tshilombo; Devriendt, Koenraad

doi:10.1155/2014/365031

Cited by 2 publications

(2 citation statements)

References 19 publications

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“…3 Table 1 shows clinical features in trisomy 13 with molecular confirmation versus our patient. 7 – 11 As we can see in Table 1 as well as in Caba et al’s paper, full classical triad of trisomy 13 is not constant, which is an indirect evidence supporting the argument that our patient likely had trisomy 13. 3…”

Section: Discussionsupporting

confidence: 85%

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Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Lubala¹,

Mukuku²,

Shongo³

et al. 2015

IMCRJ

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IntroductionThe objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma.Case presentationWe present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination.ConclusionThis observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen’s node.

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Section: Discussionsupporting

confidence: 85%

“…Whereas in most industrialized countries, trisomy 13 is diagnosed prenatally, 12 ~24% of pregnant women have no access to prenatal care services, and the vast majority of them currently do not have access to prenatal ultrasound follow-up in the Democratic Republic of Congo. 11 …”

Section: Discussionmentioning

confidence: 99%

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Lubala¹,

Mukuku²,

Shongo³

et al. 2015

IMCRJ

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Polydactyly presentations: A case report

Ode

Amupitan

Mancha

et al. 2021

ANMRP

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Polydactyly is a duplication of the digits of the hands or feet. It is a congenital anomaly and can manifest as a single disorder or as a component of a syndrome. It is typically an autosomal dominant inherited condition with variable expression and incomplete penetrance. It is genetically heterogenic being caused by mutations in different genes. It manifests in different forms, based on the position of occurrence of the extra digit. It can occur as a single disorder as a component of a syndrome. Its presentation ranges from just a skin tag to a complete digit with the accompanying metatarsal or metacarpal bone. It can result in functional impairment or it may just be a cosmetically unacceptable digit with no functional impairment. Treatment depends on the nature of the extra digit as well as any functional impairment it may be causing. Surgical excision is employed and various reconstruction procedures are also employed in treatment, and must be well planned out to avoid a worsening of function. We present two cases; a 3-month-old baby girl presenting with a hereditary preaxial polydactyly (PPD) (Wassel type V) of both feet and a 29-year-old man with isolated postaxial polydactyly of the right foot with which was symptomatic.

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Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa

Cited by 2 publications

References 19 publications

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Polydactyly presentations: A case report

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