Case Report: Gollop-Wolfgang Complex in a 5 month old baby

Area of Science:

• Medical Genetics
• Orthopedics
• Developmental Biology

Background:

• Skeletal dysplasias encompass a group of generalized skeletal abnormalities.
• Gollop-Wolfgang Complex (GWC) is a rare limb deficiency disorder with diverse clinical presentations.

Purpose of the Study:

• To report a unique case of Gollop-Wolfgang Complex in a 5-month-old male infant from India.
• To document the specific limb and skeletal malformations observed in this case.
• To discuss the potential etiology and clinical significance of this unusual presentation.

Main Methods:

• Clinical examination of the infant.
• Radiographic imaging (X-rays) to assess skeletal structures.
• Detailed documentation of all observed malformations.

Main Results:

• The infant presented with right femur bifurcation, bilateral ectrodactyly of feet, left hand ectrodactyly, right hand syndactyly.
• Unusual findings included bilateral fibular agenesis and sacrococcygeal agenesis.
• The presentation deviated significantly from typical GWC manifestations.

Conclusions:

• This case highlights the extreme variability of Gollop-Wolfgang Complex.
• The combination of limb malformations and agenesis suggests a complex developmental etiology.
• Spontaneous gene mutation is a potential cause for this GWC presentation.