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2001-02-01-10 Answer to the case of the week #42 © Sleurs

Answer to the case #42

January 19 - February 2  2001

Submitted by Elke Sleurs, MD*&, Luc De Catte, MD*

*Vrije Universiteit Brussel  and &Women’s Health Alliance, Nashville TN

A 32-year-old patient was seen in her fifth pregnancy for her booking scan.  In her past obstetric history we noted 3 missed abortions with D&C, and a premature labor after premature rupture of the membranes at ± 24 weeks of gestation. She was administered Progesteron IM twice a day, Aspirine? and Fragmin? twice a day. Karyotyping was performed by chorionic villus sampling and revealed a normal male karyotype (46,XY with G-banding). The following images were obtained at 14 weeks.

There are 2 video clips of the left arm (1.6 MB)  and legs (1.1 MB) which demonstrate the findings better then the images below.

The first set of images are the left arm of the baby (the right side presents similar findings). The images demonstrate a paucity of fingers with fused fingers. The common name of this is "lobster-claw" deformity, and the medical term is ectrodactyly. 




The second set of images are the left leg of the baby, and the right. Similar findings are observed at this level.


The findings thus are:

  • Ectrodactyly at both the hands and feet.
  • No other findings were shown and in particular no abnormal facial findings.

What is the syndrome that is represented by the findings ?

Using Ectrodactyly as a key word in OMIM provide 41 answers, using the less appropriate term of "lobster-claw" still provides a subset of 13 articles from the previous 41. Of these there is a set of 4 syndromes with only the split hand and split foot findings:

*183600 Split-Hand/Foot Malformation, Type 1; Shfm1
*313350 Split-Hand/Foot Malformation, Type 2; Shfm2
*600095 Split-Hand/Foot Malformation, Type 3; Shfm3
#605289 Split-Hand/Foot Malformation, Type 4; Shfm4

Many had suggested the EEC syndrome:

*129900 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1; Eec1

but significantly this fetus did not have a facial cleft, and there was no mention of abnormal skin in the presentation. So the final diagnosis in this case was Split-Hand/Foot Malformation

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