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Year : 2013  |  Volume : 2  |  Issue : 3  |  Page : 151-152

A case of ectrodactyly in a neonate

Department of Pediatrics, PDU Medical College, Rajkot, Gujarat, India

Date of Web Publication18-Oct-2013

Correspondence Address:
Mitul B Kalathia
Department of Pediatrics, PDU Medical College, Rajkot, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2249-4847.120013

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Ectrodactyly also known as Split hand/foot malformation is a rare limb malformation with autosomal dominant in heritance with variable penetrance, commonly known as "lobster claw hand". Usually it involves midline clefts of the hands and feet with syndactyly. We report a neonate with ectrodactyly and brief review of literature of condition.

Keywords: Ectrodactyly, split hand/foot malformation, syndactyly

How to cite this article:
Kalathia MB, Seta AA, Parmar PN. A case of ectrodactyly in a neonate. J Clin Neonatol 2013;2:151-2

How to cite this URL:
Kalathia MB, Seta AA, Parmar PN. A case of ectrodactyly in a neonate. J Clin Neonatol [serial online] 2013 [cited 2020 Jul 3];2:151-2. Available from: http://www.jcnonweb.com/text.asp?2013/2/3/151/120013

  Introduction Top

Ectrodactyly or split hand-foot malformation (SHFM) is a rare malformation involving the central rays of the hands and feet. Usually, it affects one to all four limbs randomly. It is associated with syndactyly with oligodactyly and rarely polydactyly leading to "lobster claw" appearance. Its prevalence has been reported to be about 1-9/100000. [1] The deformity is present since birth and maybe associated with other dysmorphic features and anomalies in some syndromes. Non-syndromic patients usually follow autosomal dominant inheritance with variablepenetrance. Syndromic patients have autosomal recessive or x-linked recessive inheritance. Sensorineural hearing loss is common in patient with ectrodactyly with syndromic association. It has also been observed with Aniridia and Alport syndrome. [1] Five different genetic mutations are known to be associated with SHFM. Type I, the most frequent variety, is due to a mutation on chromosome 7. [1] We report a neonate showing ectrodactyly [Figure 1] and syndactyly and polydactyly [Figure 2] of right lower limb.
Figure 1: Ectrodactyly of right lower limb

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Figure 2: Syndactyly and polydactyly of right lower limb

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Ectrodactyly can be treated surgically in order to improve function and appearance. Prosthetics may also be used. [2] Parents should be counseled regarding the possibility of recurrence of the disease in the future siblings and antenatal diagnosis by ultrasonography should be offered. [3]

  References Top

1.Jindal G, Parmar VR, Gupta VK. Ectrodactyly/split hand feet malformation. Indian J Hum Genet 2009;15:140-2.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.Pinette M, Garcia L, Wax JR, Cartin A, Blackstone J. Familial ectrodactyly. J Ultrasound Med 2006;25:1465-7.  Back to cited text no. 2
3.Arbués J, Galindo A, Puente JM, Vega MG, Hernández M, de la Fuente P. Typical isolated ectrodactyly of hands and feet: Early antenatal diagnosis. J Matern Fetal Neonatal Med 2005;17:299-301.  Back to cited text no. 3


  [Figure 1], [Figure 2]

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