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Asymmetrical crying face concomitant with Glanzmann's thrombasthenia.
Ali Bay1, Elif Aktekin, Sercan Ergun
1aDivision of Pediatric Hematology, Department of Pediatrics, School of Medicine bDepartment of Pediatrics cDepartment of Medical Biology, Gaziantep University, Gaziantep, Turkey.
Summary
Glanzmann's thrombasthenia, a rare bleeding disorder, can co-occur with asymmetric crying facies (ACF) in infants. This case highlights the importance of investigating for major congenital anomalies when ACF is detected.
Area of Science:
- Pediatrics
- Hematology
- Genetics
Background:
- Glanzmann's thrombasthenia is an inherited bleeding disorder characterized by defective platelet aggregation.
- Asymmetric crying facies (ACF) is a minor congenital anomaly resulting from unilateral hypoplasia of the depressor anguli oris muscle.
Observation:
- A 3-month-old Turkish infant presented with clinical and laboratory findings consistent with Glanzmann's thrombasthenia.
- The infant also exhibited features of asymmetric crying facies.
Findings:
- This case demonstrates a potential association between Glanzmann's thrombasthenia and asymmetric crying facies.
- The co-occurrence suggests that ACF might be a marker for underlying genetic or developmental abnormalities.
Implications:
- Pediatricians and hematologists should consider investigating for Glanzmann's thrombasthenia in infants with ACF.
- Early detection of Glanzmann's thrombasthenia and associated anomalies can lead to timely management and improved patient outcomes.
- This association underscores the importance of a thorough evaluation for major congenital anomalies in infants presenting with seemingly minor findings like ACF.
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