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Chipmunk facies is a clinical facial deformity classically seen in children with severe chronic hemolytic anemias—notably thalassemia major—characterized by prominent cheekbones, frontal bossing, depressed nasal bridge, and protrusion of upper jaw (maxillary hypertrophy), giving the appearance of a chipmunk’s puffed cheeks.

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Pathophysiology


Mechanism Details
Ineffective erythropoiesis Drives hyperplasia of bone marrow in skull and facial bones
Marrow expansion Leads to widening of diploic space, bone remodeling, and facial distortion
Maxillary overgrowth Causes dental malocclusion and protruding upper teeth

Most commonly associated conditions:

Condition Association
Beta-thalassemia major Classical and most common cause
Sickle cell anemia Less common, in chronic uncontrolled disease
Congenital dyserythropoietic anemia Severe ineffective erythropoiesis
Other chronic anemias Rarely if untreated and severe

Clinical features


Feature Presentation
Frontal bossing Prominent forehead
Protruding upper jaw Maxillary hypertrophy
Malocclusion Dental crowding, anterior open bite
Depressed nasal bridge Flat midface profile
Puffy cheeks Due to zygomatic bone prominence

![Classical ‘Chipmunk facies’ with frontal bossing, maxillary expansion, saddle nose and depressed cranial vault.

Singh A, Varma S β-Thalassaemia intermedia masquerading as β-thalassaemia major Case Reports 2014;2014:bcr2014207637.](https://casereports.bmj.com/content/casereports/2014/bcr-2014-207637/F1.medium.gif)

Classical ‘Chipmunk facies’ with frontal bossing, maxillary expansion, saddle nose and depressed cranial vault.

Singh A, Varma S β-Thalassaemia intermedia masquerading as β-thalassaemia major Case Reports 2014;2014:bcr2014207637.

Radiology


Modality Imaging features
XR Frontal bossing: Expansion of frontal bones
Hair‐on‐end appearance (skull): Vertical trabeculations in diploic space
Widened diploic space: From marrow hyperplasia
CT • Maxillary hypertrophy: Expansion of maxillary sinus walls
• Overgrowth of facial bones: Especially upper jaw

![(a) Chipmunk/rodent facies due to over-expansion of maxilla and mandible. (b and c) AP and lateral skull radiograph, elicits the protrusion of the maxilla and mandible. (b, c, and d) X-ray AP and lateral view and CT axial view showing widening of the diploic space and thinning of the inner and outer table with prominent secondary trabeculae.

Sen KK, Dubey R, Goyal M, Sharawat A. Imaging features in extramedullary hematopoiesis - A case series. Indian J Musculoskelet Radiol 2022;4:26-30.](attachment:bd57e779-f6fc-47e8-98d5-7381350e0339:IJMSR-4-026-g001.png)

(a) Chipmunk/rodent facies due to over-expansion of maxilla and mandible. (b and c) AP and lateral skull radiograph, elicits the protrusion of the maxilla and mandible. (b, c, and d) X-ray AP and lateral view and CT axial view showing widening of the diploic space and thinning of the inner and outer table with prominent secondary trabeculae.

Sen KK, Dubey R, Goyal M, Sharawat A. Imaging features in extramedullary hematopoiesis - A case series. Indian J Musculoskelet Radiol 2022;4:26-30.

Dental and orthodontic implications:

Management