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Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents
Insights
Klippel-Feil syndrome, a congenital condition causing short neck and limited neck movement, may have a genetic basis. This case suggests an autosomal recessive gene, indicating genetic heterogeneity in Klippel-Feil syndrome.
Area of Science:
- Genetics
- Pediatrics
- Medical Genetics
Background:
- Klippel-Feil syndrome is a congenital disorder characterized by the fusion of cervical vertebrae.
- Previous literature suggested an autosomal dominant inheritance pattern for certain forms of the syndrome.
Observation:
- A female infant presented at birth with classic Klippel-Feil syndrome features: short neck, restricted cervical motion, and low posterior hairline.
- Radiographic analysis revealed cervical vertebral anomalies (C1, C2-3, C3-4), classifying the case as Klippel-Feil syndrome type II.
- By 24 months, the child exhibited growth deficiency and hearing impairment.
Findings:
- The patient's parents were consanguineous, with a coefficient of inbreeding equivalent to a second-cousin relationship.
- Despite normal phenotypes and radiological findings in parents and grandparents, the clinical presentation and family history suggest a different inheritance pattern.
- This case indicates that Klippel-Feil syndrome can be determined by a single autosomal recessive gene, challenging previous assumptions.
Implications:
- The findings highlight the genetic heterogeneity of Klippel-Feil syndrome.
- This suggests the need for genetic counseling and further research into the diverse genetic underpinnings of Klippel-Feil syndrome.
- Understanding the specific genetic cause is crucial for accurate diagnosis, prognosis, and potential future therapeutic strategies.
Abstract:
We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.
