Ectrodactyly/split hand feet malformation

Jindal, Geetanjali; Parmar, Veena R.; Gupta, Vipul

doi:10.4103/0971-6866.60191

Cited by 16 publications

(13 citation statements)

References 10 publications

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“…SHFM can be inherited through an autosomal dominant or recessive trait, X-linked recessive trait or be the result of a sporadic mutation,2 the latter being the most common 3. It can also present as part of a syndrome or as an isolated finding.…”

Section: Discussionmentioning

confidence: 99%

Lady with ‘lobster claw’ feet

Aman

Darby

Rahmani³

2018

BMJ Case Reports

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A 94-year-old woman admitted with confusion secondary to a urinary tract infection exhibited deformities in all four limbs that were present from birth. Her appearance was suggestive of split hand/split foot malformation a rare congenital condition that affects the central rays of the distal limb portion. She had no syndromic features and had lived without support or assistance of her daily activities. A keen knitter, she regularly knitted for her three grandchildren, all of which, along with her son, were unaffected by this condition.

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Section: Discussionmentioning

confidence: 99%

Lady with ‘lobster claw’ feet

Aman

Darby

Rahmani³

2018

BMJ Case Reports

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“…As was reviewed by Ohlms et al on 39 patients, Mondini dysplasia is often associated with meningitis caused by S. pneumoniae or Haemophilus influenzae (Ohlms et al 1990 ). Unfortunately only three of the analysed 39 cases were diagnosed after the first episode of central nervous system infections, and the rest of the patients developed between 2 and 20 episodes before the diagnosis of malformation (Jindal et al 2009 ).…”

Section: Discussionmentioning

confidence: 99%

Recurrent Streptococcus Pneumoniae Meningitis in a Child with Split Hand and Foot Malformation and Undiagnosed Mondini Dysplasia

et al. 2015

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Recurrent bacterial meningitis is a life-threatening infection of the central nervous system that is mostly connected with anatomical abnormalities of the skull, chronic parameningeal infections and immunodeficiencies. It’s rarely seen, but when it occurs an extensive investigation should be carried out to discover the responsible factor, so that further episodes can be prevented. We report on a child with split hand and foot (SHFM), confirmed incorrect karyotype 46, XY, t(7:12)(q21.2;q21.3) and a fourth episode of fulminant meningitis caused by penicillin-resistant Streptococcus pneumoniae. After a broad evaluation of factors predisposing to recurrent meningitis, the undiagnosed malformation of his inner and middle ears - Mondini dysplasia was found. We suggest examining all children with SHFM for hearing impairment before they develop recurrent meningitis. The time when the radiological procedure for searching for inner ear dysplasia should be performed could be a controversial issue: before or after the first episode of meningitis. From the epidemiological point of view, high-resolution computer tomography scanning of the temporal bones should be considered after the diagnosis of deafness in a child with SHFM related to 7q21 deletion.

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“…4 The anamoly of ectrodactyly develops secondary to one of the chromosomal mutation which results in failure of AER (Apical epidermal ridge) to produce molecules that signals nearby cells to differentiate into digital rays, so far only mutations known to underline SHFM in humans have been found in TP63 gene. 5 Five different genetic mutations are known to be associated with SHFM. Type 1, the most frequent variety is due to mutation on chromosome 7 in a region contains 2 homeobox genes DLX5 and DLX6.…”

Section: Discussionmentioning

confidence: 99%