Abstract
Apert syndrome presents similarly to the one we presented in this image, and a genetic study is used for confirmation. This image shows the typical findings of physical examination, so that if this appears in the outpatient department, the diagnosis of Apert syndrome should be assumed.
Keywords: Apert syndrome, craniosynostosis, syndactyly, synonychia
Apert syndrome is a genetic disorder that presents with various congenital malformations. This clinical image shows the typical presentation of Apert syndrome in an 11‐year‐old child. The physician should be aware of such presentations of Apert syndrome for correct diagnosis.
1. CASE PRESENTATION
An 11‐year‐old female patient presented to the outpatient department for deformities in her hands, feet, and face. On examination, she had congenital abnormalities including complete fusion of the second, third, and fourth digits of both the upper and lower limbs, the forehead was high and prominent, the eyes were down slanting, the nasal bridge was depressed, the skull sutures were fused, and the palate was high‐arched (Figure 1). She also has a 4‐year‐old sister who has similar problem since birth. What is the most likely diagnosis?
FIGURE 1.
Clinical diagnosis of Apert syndrome. (A, B) Mitten's hands and sock feet (syndactyly), i.e., the fusion of the digits of hands and feet. (C) Tall, pointed head (acrocephaly), a high prominent forehead, hypertelorism with an extruded brow, protruded eyes (exorbitism) slanting downward, and a depressed nasal bridge. (D) High‐arched palate and missed teeth.
2. DISCUSSION/CONCLUSION
Apert syndrome is an autosomal recessive genetic condition caused by a mutation in FGR genes and mainly targets the skull sutures, hands, and feet resulting in various congenital deformities. 1 The image that we present shows the typical presentation of Apert syndromes like mitten's hands and sock feet (syndactyly), i.e., the fusion of the digits of hands and feet (Panels A and B), and a tall, pointed head (acrocephaly), a high prominent forehead, hypertelorism with an extruded brow, protruded eyes (exorbitism) slanting downward, and a depressed nasal bridge. (Panel C) Intraorally: Dentition tarda, crowding, and severe high‐arched palate can be seen (panel D). These clinical signs especially the fusion of fingers and toes distinguish Apert syndrome from other craniofacial disorders. The deformities in Apert syndrome are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc., so a multidisciplinary approach is needed for its management. 2
AUTHOR CONTRIBUTIONS
Christopher Farkouh: Conceptualization; writing – original draft; writing – review and editing. Mohammad Uzair: Conceptualization; data curation; writing – review and editing.
FUNDING INFORMATION
The study received no external funding.
CONFLICT OF INTEREST STATEMENT
There is no conflict of interest to declare.
ETHICS STATEMENT
Not required.
CONSENT
Written informed consent was obtained from the patient for the publication of these images. A copy of written consent is available for review by the Editor‐in‐Chief of this journal.
GUARANTOR
Qaisar Ali Khan.
ACKNOWLEDGEMENTS
None.
Khan QA, Farkouh C, Uzair M, Ghosh B. Clinical manifestations of Apert syndrome. Clin Case Rep. 2023;11:e6941. doi: 10.1002/ccr3.6941
DATA AVAILABILITY STATEMENT
Data can be available on reasonable request.
REFERENCES
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
Data can be available on reasonable request.