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A distinctive overgrowth syndrome with polysyndactyly
A Barnicoat1, M Salman, L Chitty
1Department of Genetics, Institute of Child Health, London, UK.
Clinical Dysmorphology
|October 1, 1996
Insights
This case report details a female infant with complex limb malformations, including syndactyly and polydactyly. The infant experienced intrauterine growth acceleration and unfortunately passed away at six months of age.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Syndactyly and polydactyly are congenital limb malformations with diverse genetic etiologies.
- Complex limb anomalies can be associated with various syndromes and may impact fetal growth and survival.
Observation:
- A female infant presented with 3-4 syndactyly of the fingers.
- The infant also exhibited postaxial polydactyly affecting all four limbs.
Findings:
- The infant was large for gestational age at birth.
- The infant survived for 6 months postnatally.
Implications:
- This case highlights the phenotypic variability of limb malformations.
- Further research into the genetic underpinnings of combined syndactyly and polydactyly is warranted.
- Understanding these anomalies is crucial for genetic counseling and prenatal diagnosis.
Abstract:
We report a female infant with 3-4 syndactyly of the fingers and postaxial polydactyly of all four limbs. She was large at birth and died at the age of 6 months.