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Síndrome de Saul Wilson: Un informe de caso con nuevas características en Arabia Saudita

Saad A Bin Owaimer¹, Fatimah H Abusrair², May R Mutlaq³

¹Physician, General Pediatrics National Guard Hospital Riyadh Kingdom of Saudi Arabia.

Clinical case reports

|February 11, 2026

Resumen

El síndrome de Saul Wilson, un trastorno genético raro causado por mutaciones en el gen COG4, se detalla en el primer caso de Arabia Saudita. Este caso amplía las características conocidas del síndrome, destacando la necesidad de reconocer la variabilidad en condiciones genéticas raras.

Área de la Ciencia:

Genética La genética.
Enfermedades raras Las enfermedades raras son enfermedades raras.
La medicina clínica es la medicina clínica.

Sus antecedentes:

El síndrome de Saul Wilson es un trastorno genético extremadamente raro.
Se caracteriza por mutaciones heterocigóticas de novo en el gen COG4.

Objetivo del estudio:

Para informar el primer caso del síndrome de Saul Wilson en Arabia Saudita.
Para describir rasgos dismórficos faciales no reportados previamente asociados con el síndrome.
Para ampliar el espectro fenotípico conocido del síndrome de Saul Wilson.

Principales métodos:

Informe de caso. informe del caso.
El examen clínico.
Análisis genético (implicado).

Principales resultados:

El primer caso documentado del síndrome de Saul Wilson en Arabia Saudita.
Identificación de nuevas características dismórficas faciales.
Expansión de la variabilidad fenotípica para el síndrome de Saul Wilson.

Conclusiones:

Se presenta el primer caso saudí de síndrome de Saul Wilson.
Se describen nuevas características dismórficas faciales, ampliando el fenotipo del síndrome.
Reconocer la variabilidad fenotípica es crucial para el diagnóstico de trastornos genéticos raros como el síndrome de Saul Wilson.

Palabras clave:

El COG4 es el COG4.El síndrome de Saul-Wilson es un síndrome Informe de caso, informe de caso.el enanismo primordial.La displasia esquelética es una displasia esquelética.

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