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[Feingold syndrome].
J L Alessandri1, D Graber, I Tiran-Rajaofera
1Service de réanimation néonatale et pédiatrique, centre hospitalier départemental Félix-Guyon, Saint-Denis, France.
Summary
Feingold syndrome is characterized by limb anomalies, microcephaly, and developmental delay. Specific finger and toe malformations, like brachymesophalangy, are key diagnostic indicators.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Feingold syndrome presents with a constellation of congenital anomalies including limb malformations, microcephaly, and developmental delay.
- It is inherited in an autosomal dominant pattern with variable expressivity and full penetrance for hand anomalies.
- Key physical findings include clinodactyly and syndactyly of the digits.
Observation:
- A case report details an African boy with duodenal atresia, microcephaly, brachymesophalangy of the second and fifth fingers, thumb hypoplasia, and syndactyly of toes.
- The patient's karyotype was normal, and no other family members were affected, suggesting a possible new mutation.
- This presentation highlights specific limb anomalies within the spectrum of Feingold syndrome.
Findings:
- Brachymesophalangy of the second and fifth fingers and amesophalangy of the lateral toes are cardinal clinical findings in Feingold syndrome.
- These findings align with the definition of brachydactyly A4-Temtamy type, suggesting it may represent a partially expressed form of Feingold syndrome.
- Esophageal or duodenal atresia occurs in 29% of Feingold syndrome cases, and reported patients typically have normal karyotypes.
Implications:
- Recognizing these specific brachydactyly patterns aids in the diagnosis of Feingold syndrome.
- The findings suggest a potential overlap or phenotypic variability between Feingold syndrome and brachydactyly A4-Temtamy type.
- Further research into the genetic underpinnings and phenotypic spectrum of Feingold syndrome is warranted.