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This case study describes a 14-month-old female with Coffin-Siris syndrome, highlighting key features like growth retardation and distinct physical characteristics. The findings suggest a possible autosomal recessive inheritance pattern for this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Coffin-Siris syndrome is a rare genetic disorder characterized by intellectual disability and distinct facial and limb abnormalities.
- Early identification and comprehensive management are crucial for affected individuals.
Observation:
- A 14-month-old female presented with typical Coffin-Siris syndrome features.
- Key observations included intrauterine growth retardation, microcephaly, profound intellectual disability, severe hypotonia, and feeding difficulties.
- Distinctive physical findings included sparse hair, specific facial features (small nose, epicanthic folds, prominent philtrum, full lips), congenital heart defect, and significant hypoplasia/aplasia of distal phalanges and nails.
Findings:
- The patient exhibited severe delay in bone maturation and hypoplasia of the lateral clavicles.
- The described features align with the known spectrum of Coffin-Siris syndrome.
- The case suggests a potential autosomal recessive inheritance pattern.
Implications:
- This detailed case report contributes to the understanding of Coffin-Siris syndrome variability.
- It underscores the importance of recognizing characteristic physical and developmental features for timely diagnosis.
- Further research into the genetic basis and inheritance patterns of Coffin-Siris syndrome is warranted.
Abstract:
A 14-month-old female with the Coffin-Siris syndrome is described. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections; sparce scalp hair, small nose, epicanthic folds, a prominent philtrum and full lips; a congenital heart defect; hypoplasia or aplasia of the distal phalanges of digits 2--5 and the corresponding nails, especially of the fifth fingers and toes, and aplasia of the middle phalanges of the little fingers and the second and fifth toes; severe delay in bone maturation. The proposita also showed hypoplasia of the lateral portions of both clavicles. Inheritance of the Coffin-Siris syndrome is possibly autosomal recessive.