Literature DB >> 22043435

Familial ectrodactyly syndrome in a nigerian child: a case report.

Mathew Durowaye1, Muhammed Adeboye, Sefiyah Yahaya-Kongoila, Adeline Adaje, Omotayo Adesiyun, Samuel Kolade Ernest, Olugbenga Ayodeji Mokuolu, Abdulrasheed Adegboye.   

Abstract

Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly has been reported in Africa, especially in several families in remote areas of central Africa but there has not been any published work on ectrodactyly in Nigeria. A baby was born in Ilorin, North Central Zone of Nigeria, with an uneventful prenatal and delivery history but was noticed to have malformation of the two hands and the two lower limbs at birth which are replica of the father's malformation. We present this case to highlight familial ectrodactyly in Nigeria and prepare us to improve upon simple prenatal diagnosis and management of the challenges associated with patients with congenital malformation in Nigeria and other developing countries.

Entities:  

Keywords:  Congenital; Ectrodactyly; Familial

Year:  2011        PMID: 22043435      PMCID: PMC3191709          DOI: 10.5001/omj.2011.67

Source DB:  PubMed          Journal:  Oman Med J        ISSN: 1999-768X


  9 in total

1.  Ectrodactyly-ectodermal dysplasia-clefting syndrome.

Authors:  G J Kelman; R C Aronoff
Journal:  J Am Podiatr Med Assoc       Date:  2000-10

2.  Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

Authors:  R S Ozen; B E Baysal; B Devlin; J E Farr; M Gorry; G D Ehrlich; C W Richard
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  Prenatal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome.

Authors:  R Köhler; P Sousa; C S Jorge
Journal:  J Ultrasound Med       Date:  1989-06       Impact factor: 2.153

Review 4.  Split hand foot malformation (SHFM).

Authors:  A M Elliott; J A Evans; A E Chudley
Journal:  Clin Genet       Date:  2005-12       Impact factor: 4.438

5.  Familial ectrodactyly.

Authors:  Michael Pinette; Louis Garcia; Joseph R Wax; Angelina Cartin; Jacquelyn Blackstone
Journal:  J Ultrasound Med       Date:  2006-11       Impact factor: 2.153

6.  X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

Authors:  M Ahmad; H Abbas; S Haque; G Flatz
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

7.  The two-toed Wadoma--familial ectrodactyly in Zimbabwe.

Authors:  H B Farrell
Journal:  S Afr Med J       Date:  1984-03-31

8.  Ectrodactyly in central Africa.

Authors:  D Viljoen; H M Farrell; J J Brossy; M McArthur; M Maheswaran; P Beighton
Journal:  S Afr Med J       Date:  1985-10-26

Review 9.  Pathogenesis of split-hand/split-foot malformation.

Authors:  Pascal H G Duijf; Hans van Bokhoven; Han G Brunner
Journal:  Hum Mol Genet       Date:  2003-04-01       Impact factor: 6.150

  9 in total
  1 in total

1.  Cultural beliefs on disease causation in the Philippines: challenge and implications in genetic counseling.

Authors:  Peter James B Abad; Michael L Tan; Melissa Mae P Baluyot; Angela Q Villa; Gay Luz Talapian; Ma Elouisa Reyes; Riza Concordia Suarez; Aster Lynn D Sur; Vanessa Dyan R Aldemita; Carmencita David Padilla; Mercy Ygona Laurino
Journal:  J Community Genet       Date:  2014-07-16
  1 in total

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