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Short foot length: a diagnostic pointer for harlequin ichthyosis.
Seshadri Suresh1, Raja Vijayalakshmi, Suresh Indrani
1Mediscan Prenatal Diagnosis and Fetal Therapy Centre, 203 Avvai Shanmugam Rd, Royapettah, Chennai 600 014, India. ssuresh@vsnl.com
Summary
Short fetal foot length may be an early indicator for diagnosing harlequin ichthyosis in the second trimester, preceding characteristic facial features. This finding aids in earlier detection of this rare fetal skin disorder.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Genetics
Background:
- Harlequin ichthyosis is a severe fetal skin disorder with characteristic antenatal sonographic findings.
- Typical phenotypic manifestations, such as ectropion and eclabium, are usually observed in the third trimester.
- Fetal skin biopsy is an option for diagnosis in the late second trimester.
Observation:
- This study investigated whether short fetal foot length could serve as an early diagnostic marker for harlequin ichthyosis.
- Three cases of harlequin ichthyosis were analyzed, with one case diagnosed in the second trimester based on sonographic findings.
- The second-trimester diagnosis was based on short foot length, preceding the development of eclabium and ectropion.
Findings:
- In all three cases, fetal foot length was significantly shorter than femur length.
- This discrepancy was particularly notable in the second-trimester case, where short foot length preceded visible facial abnormalities.
- Short foot length appears to be a potential early sonographic marker for harlequin ichthyosis.
Implications:
- Fetal foot length may represent the earliest detectable sonographic sign of harlequin ichthyosis in the second trimester.
- This finding could facilitate earlier diagnosis and management planning for harlequin ichthyosis.
- Further research is warranted to validate short foot length as a reliable early marker for harlequin ichthyosis.