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[Tri-phalangeal thumb and hypoplastic anemia in a family]
Insights
Congenital erythroid hypoplastic anemia, a rare childhood disease, presents with red blood cell hypoplasia. A mother and daughter case shows this anemia alongside unique anomalies, highlighting variable expressivity of the rare syndrome.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Congenital erythroid hypoplastic anemia (CEHA) is a rare, severe anemia affecting early childhood.
- It is characterized by isolated hypoplasia of erythroid precursors in the bone marrow.
- CEHA can present with or without associated congenital anomalies.
Observation:
- A familial case of CEHA in a mother and daughter is presented.
- The mother exhibited triphalangia of both thumbs and short stature.
- The daughter presented with hexadactyly, a simian crease, hypogammaglobulinemia, and short stature.
Findings:
- The co-occurrence of CEHA with distinct anomalies in a mother-daughter pair.
- Demonstration of variable expressivity within this rare syndrome.
- Short stature was noted in both affected individuals.
Implications:
- This case underscores the genetic heterogeneity and variable clinical presentation of CEHA.
- Highlights the importance of recognizing associated anomalies in diagnosing CEHA.
- Suggests a potential genetic link or predisposition for combined hematological and physical anomalies.
Abstract:
The congenital erythroid hypoplastic anemia is a rare disease of the early childhood and is manifested through isolated hypoplasia of the red blood cells. The authors present a case of a mother and her daughter with a classical picture of the congenital erythroid hypoplasia appearing jointly with some anomalies. The mother was found to have triphalangia of both thumbs while the child had hexodactylion, the simian scar and hypogammaglobulinemia; Both mother and child were of small size (below 3 PC). This rare syndrome of joint anomalies and congenital hypoplastic anemia may show different expressivity of particular signs which is evidenced through the presented patients.