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Olive dysplasia — Clinical Guidelines

Overview

Frontonasal dysplasia encompasses a spectrum of congenital malformations affecting the midline structures of the face, brain, and limbs. Pai syndrome, a specific subtype, features a triad of midline cleft lip, facial skin polyps, and central nervous system lipomas 1. Other subtypes, like the acromelic form (Toriello syndrome), include additional features such as brain malformations and polydactyly 2. Genetic factors, particularly consanguinity, may contribute to its manifestation 3.

Diagnosis

Key Diagnostic Criteria: Midline cleft lip, facial skin polyps, and central nervous system lipomas (Pai syndrome) 1.

Additional Features: Encephalocoele, occipital meningocele, polydactyly, and brain malformations (Toriello syndrome) 2.

Recommended Tests: Imaging studies (MRI, CT) to assess brain malformations and lipomas 1 2.

Genetic Testing: Consideration in pedigrees with consanguinity to identify potential genetic contributions 3.

Management

Surgical Interventions: Repair of cleft lip and management of skin polyps 1.

Neurological Support: Monitoring and intervention for CNS lipomas and associated brain malformations 1 2.

Orthopedic Care: Addressing polydactyly and limb malformations 2.

Multidisciplinary Approach: Collaboration with craniofacial, neurosurgical, and orthopedic specialists 1 2.

Special Populations

Pregnancy: No specific guidelines provided in abstracts [].

Pediatrics: Early surgical and multidisciplinary interventions crucial for optimal outcomes 1 2.

Comorbidities: Management tailored to specific manifestations like CNS anomalies and limb malformations 1 2.

Key Recommendations

Conduct comprehensive imaging (MRI, CT) to evaluate CNS involvement and lipomas in suspected cases (Evidence: Moderate) 1 2.

Implement a multidisciplinary team approach including craniofacial, neurosurgical, and orthopedic specialists for comprehensive care (Evidence: Expert opinion) 1 2.

Consider genetic counseling and testing in families with consanguinity and multiple affected individuals (Evidence: Moderate) 3.

References

1 Vaccarella F, Pini Prato A, Fasciolo A, Pisano M, Carlini C, Seymandi PL. Phenotypic variability of Pai syndrome: report of two patients and review of the literature. International journal of oral and maxillofacial surgery 2008. link 2 Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L. Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome). American journal of medical genetics 1992. link 3 Moreno Fuenmayor H. The spectrum of frontonasal dysplasia in an inbred pedigree. Clinical genetics 1980. link

Olive dysplasia