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Ankyloblepharon filiforme adnatum (AFA) associated with trisomy 18
Beyhan Tüysüz1, Barbaros Ilikkan, Mehmet Vural
1Department of Pediatrics, Istanbul University Cerrahpaşa Faculty of Medicine, Istanbul, Turkey.
The Turkish Journal of Pediatrics
|December 3, 2002
Summary
Ankyloblepharon filiforme adnatum, a rare eyelid condition, was observed in a 38-week-old girl. This case uniquely associated AFA with hair, nail, and eyebrow hypoplasia and trisomy 18.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Ankyloblepharon filiforme adnatum (AFA) is a rare congenital anomaly characterized by eyelid adhesion.
- The etiology of AFA remains largely unknown.
- Congenital anomalies often present with syndromic features.
Observation:
- A case report of a 38-week gestational age female infant is presented.
- The infant exhibited typical features of Ankyloblepharon filiforme adnatum.
- Associated findings included hypoplasia of hair, eyelashes, eyebrows, and nails.
Findings:
- The karyotype revealed trisomy 18 (Edwards syndrome).
- This represents a novel association between AFA and trisomy 18.
- The combination of AFA with ectodermal and chromosomal abnormalities is noteworthy.
Implications:
- This case expands the known phenotypic spectrum of trisomy 18.
- Understanding AFA's genetic associations can aid in early diagnosis and management.
- Further research into the genetic underpinnings of AFA is warranted.