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TAR-like syndrome in a consanguineous Mayan girl
J M Ceballos-Quintal1, D Pinto-Escalante, R A Gongora-Biachi
1Universidad Autonoma de Yucatan, Centro de Investigaciones Regionales Dr Hideyo Noguchi, Merida, Mexico.
Insights
This study describes a rare infant disorder resembling Thrombocytopenia-Absent Radius (TAR) syndrome, with additional severe ocular abnormalities. The findings suggest a potential genetic basis in a consanguineous family.
Area of Science:
- Pediatric Genetics
- Ophthalmology
- Hematology
Background:
- Thrombocytopenia-Absent Radius (TAR) syndrome is a rare genetic disorder characterized by limb malformations and low platelet counts.
- Familial recurrence of similar disorders raises suspicion for an underlying genetic etiology.
- Consanguinity, particularly in certain ancestral groups, can increase the risk of autosomal recessive genetic conditions.
Observation:
- A 3-month-old infant presented with features overlapping TAR syndrome.
- The infant exhibited additional congenital anomalies including depressed nasal bridge, cataracts, glaucoma, megalocorneae, and blue sclerae.
- The patient's older sibling had previously died from a similar, undiagnosed condition.
Findings:
- The described case expands the phenotypic spectrum of TAR-like syndromes.
- The combination of hematological, skeletal, and severe ocular findings suggests a novel genetic syndrome or a significant variant of known syndromes.
- Parental consanguinity (second cousins of Mayan ancestry) is a key epidemiological feature.
Implications:
- This report highlights the importance of thorough ophthalmological evaluation in infants with TAR syndrome or similar presentations.
- Identifying the genetic cause could enable genetic counseling and prenatal diagnosis for at-risk families.
- Further research into this family's genetics may elucidate new pathways involved in limb development and ocular health.
Abstract:
We report on a 3-month-old girl with a TAR-like syndrome. Her older brother died with a similar disorder at 3 months of unknown causes. The parents are second cousins of Mayan ancestry. The infant also had, in addition to the usual abnormalities of TAR syndrome, depressed nasal bridge, cataracts, glaucoma, megalocorneae, and blue sclerae.