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Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case
S Martínez Santana1, F Pérez Alvarez, J L Frías
1Unidad Neonatal, Hospital de Girona Dr. Trueta, Madrid, Spain.
Insights
This report details a rare case of multiple congenital anomalies (MCA) in a child from consanguineous parents, characterized by hypertrichosis, macrostomia, ectropion, and atrophic skin.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
Background:
- Consanguinity increases the risk of autosomal recessive disorders.
- Multiple congenital anomalies (MCA) syndromes require careful delineation for accurate diagnosis and management.
Observation:
- A child with consanguineous parents presented with a distinct MCA pattern.
- Key features included severe hypertrichosis, macrostomia, ectropion, and atrophic skin.
Findings:
- This represents the third reported case of this specific MCA combination.
- The findings expand the known spectrum of this rare genetic condition.
Implications:
- Further research is needed to identify the underlying genetic cause.
- Accurate diagnosis is crucial for genetic counseling and understanding prognosis.
Abstract:
We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of severe hypertrichosis, macrostomia, ectropion, and atrophic skin. To our knowledge this is the third case with this combination of defects. The two previous cases were reported by Barber et al. [Syndrome Identification VIII(1):6-9, 1982], and David et al. [Am J Med Genet 41:192-195, 1991].