Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.
Noah Cohen1, Erica Cohen1, Alberto Gaiero1
1Department of Pediatric and Neonatology, Inter-Regional Center for Rare-Diseases, San Paolo Hospital, Savona, Italy.
American Journal of Medical Genetics. Part A
|March 21, 2017
Summary
Hemifacial microsomia (HFM) is a rare congenital disease affecting facial development. This study details the frequent maxillofacial and systemic malformations in HFM patients, emphasizing the need for comprehensive evaluation and multidisciplinary care.
Area of Science:
- Medical Genetics
- Developmental Biology
- Craniofacial Surgery
Background:
- Hemifacial microsomia (HFM) is a rare congenital condition impacting the first and second pharyngeal arches.
- It presents with diverse maxillofacial and systemic malformations, necessitating detailed characterization.
Purpose of the Study:
- To define the types and frequency of maxillofacial and systemic malformations in patients with Hemifacial Microsomia.
- To provide a comprehensive overview of HFM-associated anomalies for improved clinical management.
Main Methods:
- A case series study involving 89 patients diagnosed with Hemifacial Microsomia.
- Data collection included patient history, physical examinations, diagnostic imaging, and laboratory analysis.
- Analysis was performed using a FileMakerPro database.
Main Results:
- Mandibular hypoplasia (86%), external ear anomalies (74%), and hearing impairment (69%) were most common.
- Ocular (41%), facial nerve paralysis (38%), cleft lip/palate (10%), and preauricular tags (55%) were also frequent.
- Systemic malformations affected 73% of patients, notably vertebral (40%), genitourinary (25%), and cardiovascular (28%) systems.
Conclusions:
- Hemifacial microsomia involves a wide spectrum of maxillofacial and systemic anomalies.
- Comprehensive clinical and imaging investigations are crucial for all suspected HFM cases.
- Affected individuals require long-term monitoring by specialized multidisciplinary teams.
Keywords:
Goldenharanotiahemifacial microsomiamandibular hypoplasiamicrotiaoculoauriculovertebral spectrumMore Related Videos
Related Concept Videos
01:22Sutures of the Skull
13.8K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
13.8K
01:33Pleiotropy
43.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.7K