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CFC syndrome: a syndrome distinct from Noonan syndrome
A Verloes1, M Le Merrer, D Soyeur
1Service de Génétique, Pathologie B23, CHU Sart Tilman, Liege.
Insights
Two children presented with a rare pattern of congenital defects including sparse hair, nystagmus, and intellectual disability. These cases may represent an extreme spectrum of CFC syndrome, with potential autosomal dominant inheritance.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Congenital anomalies present a diagnostic challenge.
- Distinguishing overlapping syndromes is crucial for accurate diagnosis and management.
- Noonan syndrome and related disorders share several clinical features.
Observation:
- Two children exhibited a distinct pattern of birth defects: very sparse, curly hair, nystagmus, and intellectual disability.
- Case 1 presented with Noonan syndrome habitus, keratosis plantaris, and nystagmus.
- Case 2 showed a Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy.
Findings:
- The observed clinical features align with previously reported syndromes, CFC syndrome and "Noonan-like short stature syndrome with sparse hair."
- The autonomy of this syndrome relative to Noonan syndrome is questioned, as individual features are present in Noonan syndrome.
- Evidence suggests probable autosomal dominant inheritance, with a likely affected father in one case.
Implications:
- These findings expand the known spectrum of congenital defects.
- Further research is needed to clarify the precise nosology and genetic basis of this condition.
- Accurate identification of this syndrome is vital for genetic counseling and understanding inheritance patterns.
Abstract:
We report two children with a common pattern of birth defects. Both have very sparse, curly hair, nystagmus and mental retardation. The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. They represent the extreme of a spectrum of congenital defects recently reported independently as CFC syndrome by Reynolds and as "Noonan-like short stature syndrome with sparse hair" by Baraitser and Patton. The clinical features are reviewed and the autonomy of the syndrome with regards to Noonan syndrome, is disputed, since every sign seems to occur independently in Noonan syndrome. The father of the second case probably has a minor syndrome expression, pointing to probable autosomal dominant inheritance.